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Neurofibromatosis Type I (NF1) is a rare genetic disorder. NF1 patients frequently develop a benign tumor in peripheral nerve plexuses called plexiform neurofibroma. In the past two decades, tissue-specific Nf1 knockout mouse models were developed using commercially available tissue-specific Cre recombinase and the Nf1 flox mice to mimic neurofibroma development. However, these models develop para-spinal neurofibroma, recapitulating a rare type of neurofibroma found in NF1 patients. The NPcis mouse model developed a malignant version of neurofibroma called malignant peripheral nerve sheath tumor (MPNST) within 3 to 6 months but intriguingly without apparent benign precursor lesion. Here, we revisited the NPcis model and discovered that about 20% display clinical signs similar to Nf1 tissue-specific knockout mice models. However, a systematic histological analysis could not explain the clinical signs we observed although we noticed lesions reminiscent of a neurofibroma in a peripheral nerve, a cutaneous neurofibroma, and para-spinal neurofibroma on rare occasions in NPcis mice. We also observed that 10% of the mice developed a malignant peripheral nerve sheath tumor (MPNST) spontaneously, coinciding with their earring tag identification. Strikingly, half of the sciatic nerves from NPcis mice developed plexiform neurofibroma within 1–6 months when intentionally injured. Thus, we provided a procedure to turn the widely used NPcis sarcoma model into a model recapitulating plexiform neurofibroma. [ABSTRACT FROM AUTHOR]

Background Reconstruction with vascularized fibula grafts (VFG) after intercalary resection of sarcoma may offer longevity by providing early graft-host union and fracture healing. The ability of the fibula to hypertrophy under mechanical stress, as well as vascularized bone in the area, may also be advantageous, given that soft tissues may be compromised because of resection, chemotherapy, or radiation therapy. VFG with a massive allograft combines the primary mechanical stability of the graft with the biological potential of the vascularized fibula; however, complications and the durability of this combined reconstruction are not well described. Questions/purposes (1) What was the proportion of complications after reconstruction with VFG, with or without allografts? (2) What was the functional result after surgical treatment as assessed by the Musculoskeletal Tumor Society (MSTS) score? (3) What was the survivorship of these grafts free from revision and graft removal? Methods Between 1988 and 2021, 219 patients were treated at our institution for a primary malignant or aggressive benign bone tumor of the tibia with en bloc resection. Of those, 54% (119 of 219) had proximal tibial tumors with epiphyseal involvement and were treated with either intraarticular resection and reconstruction with an osteoarticular allograft, allograft-prosthesis composite (APC), or modular prosthesis according to age, diagnosis, and preoperative or postoperative radiotherapy. Nine percent (20) of patients had distal tibial tumors that were treated with intra-articular resection and reconstruction with ankle arthrodesis using allogenic or autologous grafts, and 0.5% (1 patient) underwent total tibial resection for extensive tumoral involvement of the tibia and reconstruction with an APC. Thirty-six percent (79) of patients had a metadiaphyseal bone tumor of the tibia and were treated with intercalary joint-sparing resection.We routinely use reconstruction with VFG after intercalary tibial resection for primary malignant or aggressive benign bone tumors in patients with long life expectancy and high functional demands and in whom at least 1 cm of residual bone stock of the proximal or distal epiphysis can be preserved. By contrast, we routinely use intercalary massive allograft reconstruction in short resections or in patients with metastatic disease who do not have long life expectancy. We avoid VFG in patients with tibial bone metastasis, patients older than 70 years, or primary bone tumors in patients who may undergo postoperative radiotherapy; in these patients, we use alternative reconstructive methods such as intercalary prostheses, plate and cement, or intramedullary nailing with cement augmentation. According to the above-mentioned indications, 6% (5 of 79) of patients underwent massive allograft reconstruction because they were young and had intercalary resections shorter than 7 cm or had metastatic disease at diagnosis without long life expectancy, whereas 94% (74) of patients underwent VFG reconstruction. The median age at operation was 16 years (range 5 to 68 years). The diagnosis was high-grade osteosarcoma in 22 patients, Ewing sarcoma in 19, adamantinoma in 16, low-grade osteosarcoma in five, fibrosarcoma in three, malignant fibrous histiocytoma and Grade 2 chondrosarcoma in two, and malignant myoepitelioma, angiosarcoma of bone, malignant peripheral nerve sheath tumor of bone, squamous cell carcinoma secondary to chronic osteomyelitis, and desmoplastic fibroma in one patient each. Median follow-up was 12.3 years (range 2 to 35 years). The median tibial resection length was 15 cm (range 7 to 27 cm), and the median fibular resection length was 18 cm (range 10 to 29 cm). VFG was used with a massive allograft in 55 patients, alone in 12 patients, and combined with allogenic cortical bone struts in seven patients. We used VFG combined with a massive allograft in patients undergoing juxta-articular, joint-sparing resections that left less than 3 cm of residual epiphyseal bone, for intra-epiphyseal resections, or for long intercalary resections wherein the allograft can provide better mechanical stability. In these clinical situations, the combination of a VFG and massive allograft allows more stable fixation and better tendinous reattachment of the patellar tendon. VFG was used with cortical bone struts in distal tibia intercalary resections where the narrow diameter of the allograft did not allow concentric assembling with the fibula. Finally, VFG alone was often used after mid- or distal tibia intercalary resection in patients with critical soft tissue conditions because of previous surgery, in whom the combination with massive allograft would result in a bulkier reconstruction. We ascertained complications and MSTS scores by chart review, and survivorship free from revision and graft removal was calculated using the Kaplan-Meier estimator. In our study, however, the occurrence of death as a competing event was observed in a relatively low proportion of patients, and only occurred after the primary event of interest had already occurred. Considering the nature of our data, we did not consider death after the primary event of interest as a competing event. Results In all, 49% (36 of 74) of patients experienced complications and underwent operative treatment. There were 45 complications in 36 patients. There was one instance of footdrop secondary to common peroneal nerve palsy, four wound problems, one acute vein thrombosis of the VFG pedicle and one necrosis of the skin island, two episodes of implant-related pain, 10 nonunions, six fractures, six deep infections, nine local recurrences, one Achilles tendon retraction, one varus deformity of the proximal tibia with postoperative tibial apophysis detachment, one knee osteoarthritis, and one hypometria. The median MSTS score was 30 (range 23 to 30); the MSTS score was assessed only in patients in whom the VFG was retained at the final clinical visit, although if we had considered those who had an amputation, the overall score would be lower. Revision-free survival of the reconstructions was 58% (95% confidence interval 47% to 70%) at 5 years, 52% (95% CI 41% to 65%) at 10 and 15 years, and 49% (95% CI 38% to 63%) at 20 and 30 years. Eight patients underwent VFG removal because of complications, with an overall reconstruction survival of 91% (95% CI 84% to 98%) at 5 years and 89% (95% CI 82% to 97%) at 10 to 30 years. Conclusion VFG, alone or combined with an allograft, could be considered in reconstructing a lower extremity after intercalary resections of the tibia for primary bone tumors, and it avoids the use of a large endoprosthesis. However, this procedure was associated with frequent, often severe complications during the first postoperative years and complication-free survival of 58% at 5 years. Nearly 10% of patients ultimately had an amputation. For patients whose reconstruction succeeded, the technique provides a durable reconstruction with good MSTS scores, and we believe it is useful for active patients with long life expectancy. Fractures, frequently observed in the first 5 years postoperatively, might be reduced using longspanning plate fixation, and that appeared to be the case in our study. Nonbridging fixation can be an option in intraepiphyseal resection when a spanning plate cannot be used or in pediatric patients to enhance fibula hypertrophy and remodeling. We did not directly compare VFG with or without allografts to other reconstruction options, so the decision to use this approach should be made thoughtfully and only after considering the potential serious risks. [ABSTRACT FROM AUTHOR]

Schwannomas are benign peripheral nerve sheath tumors arising from myelinating Schwann cells. Although macrocystic changes are regularly encountered in schwannoma variants such as vestibular nerve tumors, they are exceedingly rare among spinal neoplasms. Case report and systematic review of 4 databases (Ovid Medline, PubMed, Science Direct, and SCOPUS) from inception to present. All peer-reviewed publications reporting intradural cystic thoracic schwannoma were included. We identified 8 publications documenting 9 cases of cystic thoracic schwannoma. Four were female, 5 male; median age was 41 years (range, 27–80). Presentations ranged from incidental to pain, sensory changes, lower extremity paresis, or bowel/bladder dysfunction. Characteristic radiographic findings included T1 hypointensity, T2 hyperintensity, and cord effacement or compression. The present case followed a similar pattern: a 52-year-old male presented with worsening bilateral lower extremity weakness, low back pain, and gait dysfunction, worsening over 3 days. Examination also revealed decreased left lower extremity sensation. Imaging identified a well-delineated intradural, extramedullary macrocystic extending over T7-T10. The patient underwent a laminectomy resulting in complete tumor resection and restoration of intact neurologic function. Final pathology confirmed benign cystic schwannoma. Macrocystic thoracic schwannomas are exceedingly rare and lack a comprehensive scheme for clinical classification of their natural history and pathogenesis. We report the 10th case of such a schwannoma, and the first associated systematic review. Although macrocystic thoracic schwannomas are not frequently encountered, accurate diagnosis and appropriate neurosurgical treatment is critical in these vulnerable patients, given the opportunity for excellent functional outcomes following neurosurgical treatment. [Display omitted] [ABSTRACT FROM AUTHOR]

Background: Neurofibromas are benign peripheral nerve sheath tumors usually featured with neurofibromatosis type 1 syndrome. Recurrent gingival neurofibromas have been rarely reported in the periodontal literature, particularly affecting elderly patients. Methods and Results: A 70‐year‐old man with a pale, rubbery, and painless thickening along the facial/buccal gingiva of the mandibular right canine and first premolar. Ten years prior, the patient had undergone excision of a neurofibroma within the same region. The patient denied a history of cutaneous disease or neurofibromatosis. Histopathologic and immunostaining of the excised lesion confirmed the diagnosis as a recurrent gingival neurofibroma. Conclusions: With cases of suspected recurrent neurofibroma, attending practitioners should consult with an oral pathologist whether the primary lesion had exhibited tumor cells to the surgical specimen margin. Preoperative use of a cone beam computed tomography scan may enhance determination of tumor depth. Clinicians should also carefully weigh the decision for conservative excision of gingival neurofibromas and greater risk of recurrence versus performing a somewhat wider extirpation and possible formation of a mucogingival defect. Key points: What are important clinical considerations when performing a gingival biopsy?Gingival neurofibromas may be associated with an increased risk for recurrence owing to decisions for tissue‐sparing excision and prevention of a mucogingival defect; supplemental use of cone beam computed tomographic scans may provide greater appreciation of tumor depth. What is a reasonable length of time of postoperative assessment for gingival neurofibromas?Patients who have undergone surgical removal of a gingival neurofibroma should undergo yearly surveillance for at least 10 years. What is a key limitation to this case study?Preoperatively, attending clinicians should consult with an oral pathologist to ascertain whether a primary lesion had manifested tumor cells to the surgical margin. Conservative gingival resection of a neurofibroma may promote recurrence. [ABSTRACT FROM AUTHOR]

This is a case report on how an 18 year old had to live with a growth on her back since last twelve years due to lack of medical facilities and taboos associated with these growths in developing nations like India. The girl had stunted growth due to the weight she was carrying and associated deformities in her spine. She was evaluated and finally underwent surgery for the same. Plexiform neurofibromas are tumors of the peripheral nerve sheaths. They occur in people born with genetic disease called neurofibromatosis. They are slow growing tumors and keep on growing with age. They are soft to begin with. There are instances when plexiform neurofibromas have shown rapid growth. Neurofibromas are generally considered benign and not removed until they cause any complication or for cosmetic reasons. We hereby present a case of plexiform neurofibroma which grew to reach a weight of 28 kgs and ended up causing spinal deformities in a young girl. Background: Plexiform neurofibromas are tumors of the peripheral nerve sheaths. They occur in people born with genetic disease called neurofibromatosis. They are slow growing tumorsand keep on growing with age. They are soft to begin with. There are instances when plexiform neurofibromas have shown rapid growth. Neurofibromas are generally considered benign and not removed until they cause any complication or for cosmetic reasons. Methods:. We hereby present a case of plexiform neurofibroma which grew to reach a weight of 28 kgs and ended up causing spinal deformities in a young girl. Results:This is a case report on how an 18 year old had to live with a growth on her back since last twelve years due to lack of medical facilities and taboos associated with these growths in developing nations like India. The girl had stunted growth due to the weight she was carrying and associated deformities in her spine. She was evaluated and finally underwent surgery for the same. Conclusions:in India, the lack of medical facilities and the negligence still met to the girl child is responsible for such humungous growths presenting at the tertiary centres even in the 21st century. It is the need of the hour to work on both these challenges. [ABSTRACT FROM AUTHOR]

Background: Benign nerve sheath tumors presenting as solitary retroperitoneal masses (RBNSTs) pose a complex diagnostic challenge for multidisciplinary teams regarding differential diagnosis, staging, and treatment planning. This article reviews the role played by different imaging techniques in assessing RBNSTs and elucidates their typical pathological features with a particular emphasis on the correlation between imaging and histological findings. Furthermore, some examples of retroperitoneal tumors that merit consideration in the process of differential diagnosis based on cross-sectional investigations (CSIs) are reported. The correlation between tissue architecture and appearance on imaging can help increase the accuracy of differential diagnosis with other retroperitoneal neoplasms at CSIs. Critical relevance statement: This educational review critically examines the correlation between imaging and histological features in solitary retroperitoneal benign nerve sheath tumors, offering valuable insights for improving the accuracy of differential diagnosis in clinical radiology. Key Points: RBNSTs are challenging to diagnose because they lack specific radiological features. Differential diagnosis of RBNSTs from other retroperitoneal neoplasms on imaging is complex. Surgical removal of RBNSTs is recommended for an accurate diagnosis. [ABSTRACT FROM AUTHOR]

Background: Benign peripheral nerve sheath tumors (BPNSTs) include schwannomas and neurofibromas. About 10% of soft tissue sarcomas are malignant peripheral nerve sheath tumors (MPNSTs), which are invasive and aggressive tumors. These can happen occasionally or after radiation exposure. Up to 90% of schwannomas are made up of differentiated neoplastic Schwann cells. Malignant transformation of schwannomas is rare. Methods: We collected the medical records of all patients (including their family histories), performed comprehensive physical and neurological assessments, and checked for the presence of a Tinel-like sign, as well as screening for neurofibromatosis (NF) signs. Magnetic resonance imaging (MRI), nerve conduction studies, and ultrasound were done for all cases. Results: We have operated on 21 patients with age range 29–52 years. The mean age was 39.4 years. 14 of these patients were females and 7 were males. The presenting symptoms were just swelling at nerve site in 14 patients, spontaneous pain at the nerve sites in 7 patients, and sensory deficit at the nerve distribution sites in 9 patients. The other 12 patients were sensory intact and only 7 patients had motor deficit. Postoperatively all patients had improved motor and sensory deficit and none of intact patients were worsened. Preoperatively we did MRI to show important nearby vascular structure anatomical abnormalities and we ordered nerve studies to all patients that showed abnormalities, which was only in 9 patients. Gross total resection was done in 18 patients and other 3 cases had partial resection to avoid sensory and motor deficits. The pathological analysis revealed 11 schwannomas and 10 neurofibromas. With 1 year follow up there was no recurrence in any patients. Conclusion: Benign pheripheral nerve sheath tumours are safely resected without increased sensory and motor deficits after surgery and with improve clinical outcome with no recurrence on follow up. [ABSTRACT FROM AUTHOR]

This document is a comment on a case report and literature review titled "Primary Pericardial Synovial Sarcoma" published in the journal Diagnostics. The authors discuss the diagnosis and imaging of synovial sarcoma (SS), a rare type of spindle cell sarcoma. They highlight the importance of pathology and imaging for precise diagnosis, as well as the limitations of fluorescence in situ hybridization (FISH) in confirming the diagnosis. The authors also introduce other diagnostic tools, such as immunohistochemistry (IHC) using SS18-SSX and SSX antibodies, and molecular confirmation using methods like RNA sequencing and fragment analysis. They emphasize the need for a variety of diagnostic approaches in cases of rare cancers and sarcomas. [Extracted from the article]

Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene that encodes neurofibromin, a RAS GTPase-activating protein. Inactivating NF1 mutations cause hyperactivation of RAS-mediated signaling, resulting in the development of multiple neoplasms, including malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are an aggressive tumor and the main cause of mortality in patients with NF1. MPNSTs are difficult to resect and refractory to chemo- and radiotherapy, and no molecular therapies currently exist. Immune checkpoint blockade (ICB) is an approach to treat inoperable, undruggable cancers like MPNST, but successful outcomes require an immune cell-rich tumor microenvironment. While MPNSTs are noninflamed "cold" tumors, here, we converted MPNSTs into T cell-inflamed "hot" tumors by activating stimulator of IFN genes (STING) signaling. Mouse genetic and human xenograft MPNST models treated with a STING agonist plus ICB exhibited growth delay via increased apoptotic cell death. This strategy offers a potential treatment regimen for MPNSTs. [ABSTRACT FROM AUTHOR]

Simple Summary: Neuroblastoma, a cancer of the peripheral nervous system, is the most common and deadly tumor that occurs in childhood. In order to cure more patients with neuroblastoma, alternative treatment approaches based on biological understanding of the disease are fundamental. In this review, we discuss the recent developments in neuroblastoma research, with emphasis on new molecular technique approaches for understanding the molecular and cellular interactions within the tumor microenvironment and the development of new treatment modalities holding promise for future treatment regimens. Neuroblastoma is a peripheral nervous system tumor that almost exclusively occurs in young children. Although intensified treatment modalities have led to increased patient survival, the prognosis for patients with high-risk disease is still around 50%, signifying neuroblastoma as a leading cause of cancer-related deaths in children. Neuroblastoma is an embryonal tumor and is shaped by its origin from cells within the neural crest. Hence, neuroblastoma usually presents with a low mutational burden and is, in the majority of cases, driven by epigenetically deregulated transcription networks. The recent development of Omic techniques has given us detailed knowledge of neuroblastoma evolution, heterogeneity, and plasticity, as well as intra- and intercellular molecular communication networks within the neuroblastoma microenvironment. Here, we discuss the potential of these recent discoveries with emphasis on new treatment modalities, including immunotherapies which hold promise for better future treatment regimens. [ABSTRACT FROM AUTHOR]

This cross-sectional study aimed to explore the association of overweight and inflammatory indicators with breast cancer risk in Chinese patients. Methods: Weight, height, and peripheral blood inflammatory indicators, including white blood cell count (WBC), neutrophil count (NE), lymphocyte count (LY), platelet count (PLT) and the concentration of hypersensitivity C-reactive protein (hsCRP), were collected in 383 patients with benign breast lumps (non-cancer) and 358 patients with malignant breast tumors (cancer) at the First Affiliated Hospital of Soochow University, China, from March 2018 to July 2020. Body mass index (BMI), neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR) and systemic immune-inflammation index (SII) were determined according to the ratio equation. The correlations among overweight, inflammatory indicators, and the proportion of non-cancer or cancer cases were analyzed. Results: BMI is associated with an increased breast cancer risk. Compared with non-cancer patients, the average WBC count, NE count, NLR, and level of hsCRP were significantly higher in cancer patients. The level of hsCRP was closely associated with the size of malignant breast tumors. Conclusion: We conclude that overweight and high levels of hsCRP may serve as putative risk factors for malignant breast tumors in Chinese women. [ABSTRACT FROM AUTHOR]

The treatment for peripheral nerve sheath tumors (PNSTs) is based on surgical excision and the primary goal is to improve symptoms whilst preserving neurological function. In order to improve this technique, surgeons may use sodium fluorescein (SF) to help visualize the neoplasm and, consequently, facilitate its removal. Aiming to assess the efficacy of this emerging surgical strategy, we conducted a systematic review and single-arm meta-analysis. We conducted a systematic search on the PubMed, Embase, and Web of Science databases, following the PRISMA guidelines. Studies without outcomes of interest, case series with less than four patients, letters, comments, technical notes, editorials, reviews, and basic research papers were excluded. The outcomes considered for this study were: the number of tumors that achieved total resection, subtotal resection, or near total resection, the approach/technique utilized by the surgeon, SF-related complications, and total complications. Five studies, with a total of 175 individuals, were included in our survey. Notably, 70% of the neoplasms presented by the patients were schwannomas. Considering extracranial lesions, we found a proportion of 96% (95% CI: 88 − 100%) in total resection, 0% (95% CI: 0–1%) in near total resection, and 4% (95% CI: 0–12%) in subtotal resection, all linked to an amount of 185 analyzed PNSTs. Furthermore, a proportion of 1% (95% CI: 0 − 2%) in SF-related complications was spotted among 183 patients. Finally, total complications analysis accounted for 11% (95% CI: 0 − 25%) among 183 individuals. We concluded that SF-assisted resection of PNSTs is a suitable and relatively safe technique, linked to minimum complications, of which the majority was not associated with the chemical compound itself. Future research is necessary to increase the number of patients available in the current literature and, therefore, enhance future analyses. [ABSTRACT FROM AUTHOR]

Transglutaminase type 2 (TG2) is the most ubiquitously expressed member of the transglutaminase family. TG2 catalyzes the transamidation reaction leading to several protein post-translational modifications and it is also implicated in signal transduction thanks to its GTP binding/hydrolyzing activity. In the nervous system, TG2 regulates multiple physiological processes, such as development, neuronal cell death and differentiation, and synaptic plasticity. Given its different enzymatic activities, aberrant expression or activity of TG2 can contribute to tumorigenesis, including in peripheral and central nervous system tumors. Indeed, TG2 dysregulation has been reported in meningiomas, medulloblastomas, neuroblastomas, glioblastomas, and other adult-type diffuse gliomas. The aim of this review is to provide an overview of the biological and functional relevance of TG2 in the pathogenesis of nervous system tumors, highlighting its involvement in survival, tumor inflammation, differentiation, and in the resistance to standard therapies. [ABSTRACT FROM AUTHOR]

In Neurofibromatosis type 1 (NF1), peripheral nerve sheaths tumors are common, with cutaneous neurofibromas resulting in significant aesthetic, painful and functional problems requiring surgical removal. To date, determination of adequate surgical resection margins–complete tumor removal while attempting to preserve viable tissue–remains largely subjective. Thus, residual tumor extension beyond surgical margins or recurrence of the disease may frequently be observed. Here, we introduce Shifted-Excitation Raman Spectroscopy in combination with deep neural networks for the future perspective of objective, real-time diagnosis, and guided surgical ablation. The obtained results are validated through established histological methods. In this study, we evaluated the discrimination between cutaneous neurofibroma (n = 9) and adjacent physiological tissues (n = 25) in 34 surgical pathological specimens ex vivo at a total of 82 distinct measurement loci. Based on a convolutional neural network (U-Net), the mean raw Raman spectra (n = 8,200) were processed and refined, and afterwards the spectral peaks were assigned to their respective molecular origin. Principal component and linear discriminant analysis was used to discriminate cutaneous neurofibromas from physiological tissues with a sensitivity of 100%, specificity of 97.3%, and overall classification accuracy of 97.6%. The results enable the presented optical, non-invasive technique in combination with artificial intelligence as a promising candidate to ameliorate both, diagnosis and treatment of patients affected by cutaneous neurofibroma and NF1. [ABSTRACT FROM AUTHOR]

Background: Cellular senescence frequently occurs during anti-cancer treatment, and persistent senescent tumor cells (STCs) unfavorably promote tumor progression through paracrine secretion of the senescence-associated secretory phenotype (SASP). Extracellular vesicles (EVs) have recently emerged as a novel component of the SASP and primarily mediate the tumor-promoting effect of the SASP. Of note, the potential effect of EVs released from STCs on tumor progression remains largely unknown. Methods: We collected tumor tissues from two cohorts of colorectal cancer (CRC) patients to examine the expression of p16, p21, and SERPINE1 before and after anti-cancer treatment. Cohort 1 included 22 patients with locally advanced rectal cancer (LARC) who received neoadjuvant therapy before surgical resection. Cohort 2 included 30 patients with metastatic CRC (mCRC) who received first-line irinotecan-contained treatment. CCK-8, transwell, wound-healing assay, and tumor xenograft experiments were carried out to determine the impacts of EVs released from STCs on CRC progression in vitro and in vivo. Quantitative proteomic analysis was applied to identify protein cargo inside EVs secreted from STCs. Immunoprecipitation and mass spectrometer identification were utilized to explore the binding partners of SERPINE1. The interaction of SERPINE1 with p65 was verified by co-immunoprecipitation, and their co-localization was confirmed by immunofluorescence. Results: Chemotherapeutic agents and irradiation could potently induce senescence in CRC cells in vitro and in human CRC tissues. The more significant elevation of p16 and p21 expression in patients after anti-cancer treatment displayed shorter disease-free survival (DFS) for LARC or progression-free survival (PFS) for mCRC. We observed that compared to non-STCs, STCs released an increased number of EVs enriched in SERPINE1, which further promoted the progression of recipient cancer cells. Targeting SERPINE1 with a specific inhibitor, tiplaxtinin, markedly attenuated the tumor-promoting effect of STCs-derived EVs. Additionally, the patients with greater increment of SERPINE1 expression after anti-cancer treatment had shorter DFS for LARC or PFS for mCRC. Mechanistically, SERPINE1 bound to p65, promoting its nuclear translocation and subsequently activating the NF-κB signaling pathway. Conclusions: We provide the in vivo evidence of the clinical prognostic implications of therapy-induced senescence. Our results revealed that STCs were responsible for CRC progression by producing large amounts of EVs enriched in SERPINE1. These findings further confirm the crucial role of therapy-induced senescence in tumor progression and offer a potential therapeutic strategy for CRC treatment. [ABSTRACT FROM AUTHOR]

Neurolymphomatosis (NL) is an uncommon malignant lymphoma characterized by selective infiltration of the central and peripheral nervous system. In this case report, we present a patient diagnosed with diffuse large B-cell lymphoma who initially manifested with peripheral neuropathy, primarily characterized by weakness of the left lower limb. By exploring its clinical manifestations, ancillary tests, and reviewing the relevant literature, we aim to deepen our understanding, diagnosis, and treatment of this disease. A 48-year-old male patient presented to the Department of Neurology, Hematology, and Neurosurgery with complaint of left lower limb weakness that had persisted for over 11 months. Initial laboratory tests and cerebrospinal fluid analysis yielded negative results. Electromyography examination indicated damage to the left lumbar plexus and iliac plexus nerves raising suspicions of nerve root involvement. Enhanced MRI of the lumbosacral plexus nerves revealed thickening and enhanced signals in left nerve roots at T12-L1, L1-2, and L3-4 levels. Additionally, local thickening and enhancement of signals were observed in the left erector spine muscle, psoas major, and iliopsoas muscles compared to the contralateral side. PEC/CT imaging displayed multiple soft tissue density shadows in the left foraminal area at the T12-1 and L1-2 levels. Bone marrow examination excluded hematological disease. Subsequent biopsy of the left foraminal nerve root at T12-L1 and the vertebral muscle at L3 level confirmed a diagnosis of diffuse large B-cell malignant lymphoma, indicating PNSL due to the involvement of multiple nerve roots. Following diagnosis, the patient underwent chemotherapy, resulting in the alleviation of his symptoms. Diagnosing PNSL can be challenging due to the nonspecific clinical manifestations and often inconclusive laboratory test results. Misdiagnosis and delayed diagnosis are common pitfalls. Electromyography may reveal damage to the affected peripheral nerves, while MR imaging might show nerve root thickening, and PET/CT can demonstrate increased lesion uptake. However, the definitive diagnosis relies on a biopsy of the lesion. Treatment for PNSL typically involves chemotherapy. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to evaluate neurofibromatosis type 1 (NF1) patients with whole-body MRI (WBMRI) to investigate the frequency of plexiform neurofibromas (pNFs), diffuse neurofibromas (dNFs), and malignant peripheral nerve sheath tumors (MPNSTs). Materials and methods: In this retrospective cross-sectional study, between the years 2015 and 2023, 83 consecutive patients with known NF1 underwent a total of 110 WBMRI screenings for MPNST using a standardized institutional protocol. The lesions are categorized as discrete lesions, pNFs, dNFs, and MPNSTs. Histopathology served as the reference standard for all MPNSTs. Results: Among the 83 patients analyzed, 53 (64%) were women and 30 were men (36%) of ages 36.94±14.43 years (range, 15–66 years). Of the 83 patients, 33 have a positive family history of NF1 and positive genetic studies. Seven of 83 (8%) have only dNF, 20/83 (24%) have pNF, 28/83 (34%) have both dNF and pNF, and 28/83 (34%) have neither. Of the 83 patients, eight (9.6%) were diagnosed with nine total MPNSTs. Age range for patients with MPNSTs at time of diagnosis was 22–51, with an average age of 33.4 years. Only one MPNST (11%) developed from underlying pNF 4 years after WBMRI along the right bronchial tree. Three of eight (37.5%) patients with MPNST died within 5 years of pathologic diagnosis. Conclusion: This study suggests the absence of a predisposition for development of MPNST from pNFs and dNFs in the setting of NF1. As such, these lesions may not need special surveillance compared to discrete peripheral nerve sheath tumors. [ABSTRACT FROM AUTHOR]

Objectives: To compare MRI features of sporadic and neurofibromatosis syndrome–related localized schwannomas and neurofibromas. Methods: In this retrospective study, our pathology database was searched for "neurofibroma" or "schwannoma" from 2014 to 2019. Exclusion criteria were lack of available MRI and intradural or plexiform tumors. Qualitative and quantitative anatomic (location, size, relationship to nerve, signal, muscle denervation) and functional (arterial enhancement, apparent diffusion-weighted coefficient) MRI features of sporadic and syndrome-related tumors were compared. Statistical significance was assumed for p < 0.05. Results: A total of 80 patients with 64 schwannomas (sporadic: 42 (65.6%) v. syndrome-related: 22 (34.4%)) and 19 neurofibromas (sporadic: 7 (36.8%) v. syndrome-related: 12 (41.7%)) were included. Only signal heterogeneity (T2W p=0.001, post-contrast p=0.03) and a diffused-weighted imaging target sign (p=0.04) were more frequent with schwannomas than neurofibromas. Sporadic schwannomas were similar in size to syndrome-related schwannomas (2.9±1.2cm vs. 3.7±3.2 cm, p = 0.6), but with greater heterogeneity (T2W p = 0.02, post-contrast p = 0.01). Sporadic neurofibromas were larger (4.6±1.5cm vs. 3.4±2.4 cm, p = 0.03) than syndrome-related neurofibromas, also with greater heterogeneity (T2W p=0.03, post-contrast p=0.04). Additional tumors along an affected nerve were only observed with syndrome-related tumors). There was no difference in apparent diffusion coefficient values or presence of early perfusion between sporadic and syndrome-related tumors (p > 0.05). Conclusions: Although syndrome-related and sporadic schwannomas and neurofibromas overlap in their anatomic, diffusion and perfusion features, signal heterogeneity and presence of multiple lesions along a nerve are differentiating characteristics of syndrome-related tumors. [ABSTRACT FROM AUTHOR]

Background: We investigated whether non-enhancement MRI features, including measurement of the heterogeneity of the tumor with MR T2 imaging by calculating coefficient of variation (CV) values, were associated with the prognosis of non-metastatic malignant peripheral nerve sheath tumors (MPNST). Methods: This retrospective study included 42 patients with MPNST who had undergone surgical resection (mean age, 50 years ± 21; 20 male participants). Non-enhancement MR images were evaluated for signal intensity heterogeneity on T1- and T2-weighted imaging, tumor margin definition on T1- and T2-weighted imaging, peritumoral edema on T2-weight imaging, and CV. We measured the signal intensities of MR T2-weighted images and calculated the corresponding CV values. CV is defined as the ratio of the standard deviation to the mean. The associations between factors and overall survival (OS) were investigated via the Kaplan–Meier method with log-rank tests and the Cox proportional hazards model. Results: The mean CV value of MR T2 images was 0.2299 ± 0.1339 (standard deviation) (range, 0.0381–0.8053). Applying receiver operating characteristics analysis, the optimal cut-off level for CV value was 0.137. This cut-off CV value was used for its stratification into high and low CV values. At multivariate survival analysis, a high CV value (hazard ratio = 3.63; 95% confidence interval = 1.16–16.0; p = 0.047) was identified as an independent predictor of OS. Conclusion: The CV value of the signal intensity of heterogenous MPNSTs MR T2-weighted images is an independent predictor of patients' OS. [ABSTRACT FROM AUTHOR]

Neurofibromatosis Type 1 (NF1) is a common neurogenic condition characterized by heterozygous loss of function mutations in the neurofibromin gene. NF1 patients are susceptible to the development of neurofibromas, including plexiform neurofibromas (pNFs), which occurs in about half of all cases. Plexiform neurofibroma are benign peripheral nerve sheath tumors originating from Schwann cells after complete loss of neurofibromin; they can be debilitating and also transform into deadly malignant peripheral nerve sheath tumors (MPNSTs). Here, our data indicates that silver nanoparticles (AgNPs) may be useful in the treatment of pNFs. We assessed the cytotoxicity of AgNPs using pNF cells and Schwann cells derived from the same NF1 patient. We found that AgNPs are selectively cytotoxic to pNF cells relative to isogenic Schwann cells. We then examined the role of neurofibromin expression on AgNP-mediated cytotoxicity; restoration of neurofibromin expression in pNF cells decreased sensitivity to AgNP, and knockdown of neurofibromin in isogenic Schwann cells increased sensitivity to AgNP, outlining a correlation between neurofibromin expression and AgNP-mediated cytotoxicity. AgNP was able to selectively remove pNF cells from a co-culture with patient-matched Schwann cells. Therefore, AgNPs represent a new approach for clinical management of NF1-associated pNF to address significant clinical need. [ABSTRACT FROM AUTHOR]

Pronator syndrome is a median nerve entrapment neuropathy that can be difficult to diagnose due to its variable presentation and objective findings. Neurolymphomatosis is an uncommon disease in which malignant lymphocytes infiltrate central or peripheral nerve endoneurium and is often missed for prolonged periods prior to diagnosis. We present a rare case of pronator syndrome and anterior interosseous nerve palsy due to neurolymphomatosis that was occult on initial MRI in spite of the presence of a median nerve mass discovered intra-operatively during neurolysis. This case demonstrates the value of ultrasound for the examination of peripheral nerve pathology and illustrates its utility as an adjunct to MRI, in part due to the ability to screen a large region. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the feasibility and capability of UT in detecting musculoskeletal system lesions in the limbs and to explore its image quality. Materials and Methods: The Institutional Review Board has approved this prospective single-center study. This study included participants with various musculoskeletal and neurologic disorders in the limbs who provided written consent from October 2022 to April 2023. In addition to other radiological examinations (X-rays, CT, or MRI) and conventional handheld ultrasound scans requested by clinicians based on the conditions, each participant also underwent UT scanning using our developed limb ultrasound imaging system during the same period. Four radiologists and ultrasound physicians with more than five years of experience in musculoskeletal diagnostics analyzed the two-dimensional and three-dimensional images of the examination area. Results: Overall, 50 participants were evaluated (mean age, 36 years ± 18 [SD]; 26 males). The conditions included musculoskeletal tumors (n = 10), postoperative follow-up of musculoskeletal tumors (n = 20), peripheral nerve disorders in the limbs (n = 10) and postoperative pain in orthopedic surgery (n = 10). In all UT images, the region of interest was completely displayed, and internal structures such as muscles and nerves were clearly visible. Compared to conventional ultrasound images, the reconstructed three-dimensional images intuitively displayed the relationship between the lesions and surrounding tissues. Furthermore, UT did not exhibit metal artifacts when observing soft tissues around metallic implants, providing more comprehensive soft tissue information and more intuitive stereoscopic images. Conclusion: Clinical results of the UT system have demonstrated its feasibility as an automated and standardized imaging technique for musculoskeletal imaging, providing a new imaging modality for the diagnosis of musculoskeletal diseases in the human body. [ABSTRACT FROM AUTHOR]

Objective: Rare disease. Background: Neurilemmomas are rare tumors derived from the Schwann cells that comprise the peripheral nerve sheaths. They have a slow growth and rarely display malignancy. Early diagnosis is rare, and the treatment consists by surgical resection. Although robotic-assisted surgery is commonly used for treating retroperitoneal diseases, there are few reports of resection of retroperitoneal and pelvic schwannoma through robotic-assisted surgery. In the present study, we reported a case of complete excision of a benign retroperitoneal schwannoma of the obturator nerve by robotic-assisted surgery. Case Report: A 51-year-old woman was referred by her gynecologist for left pelvic discomfort of a 3-month duration. The physical examination was normal, but a computerized tomography scan of the abdomen and pelvis showed an expansive pelvic lesion in the topography of the left iliac vessels, a hypodense contrast enhancement measuring 4.6Ã--3.4 cm. Magnetic resonance imaging showed an extraperitoneal lesion located medially and inferiorly to the left external iliac vessels, with a size of 4.9Ã--3.7 cm, and of probable neural etiology. Surgical resection of the tumor was recommended because of the diagnostic hypothesis of obturator nerve schwannoma. Conclusions: This case showed that retroperitoneal neurilemmomas are difficult to diagnose owing to a lack of specific symptoms, and the best treatment is complete tumor resection. The use of robotic techniques gives greater dexterity to the surgeon, since it provides high-definition 3-dimensional vision, which can make the removal of retroperitoneal tumors susceptible to minimally invasive resection in a safe and effective way. [ABSTRACT FROM AUTHOR]

This article discusses a rare case of a 36-year-old female patient who presented with symptoms such as ataxia, hearing loss, tinnitus, facial numbness, ear ache/pressure, vertigo, vomiting, headache, and vertical diplopia. The patient was diagnosed with a cerebellopontine angle (CPA) exophytic brainstem glioma that mimicked a vestibular schwannoma (VS). After a multidisciplinary tumor conference, a biopsy was performed, revealing a glioblastoma multiforme (GBM) with specific genetic mutations. The patient underwent chemoradiation treatment but unfortunately experienced ongoing symptoms and survived for 14 months post-treatment. This case highlights the importance of careful analysis of MRI scans, multidisciplinary discussions, and planning for biopsy and surgery in similar cases. [Extracted from the article]

This article compares the efficacy and outcomes of surgical resection versus stereotactic radiosurgery (SRS) for the management of trigeminal schwannomas (TS). The study analyzed 45 retrospective observational studies comprising 1,391 patients. The results showed that surgical resection had significantly higher rates of pain improvement and tumor control compared to SRS. However, there were no significant differences in other trigeminal nerve outcomes, such as facial paresthesias and motor function, as well as tumor recurrence and progression. The findings suggest the importance of individualized treatment decisions based on patient characteristics and tumor profile. [Extracted from the article]

Key Clinical Message: Endoscopic removal of premalignant polyps can prevent colorectal cancers. It is considered a safe procedure, yet there are some complications reported. Rectus abdominis muscle abscess (RAMA) is a type of pyomyositis seen as a complication of rectus sheath hematoma. Predisposing factors to RAMA include trauma, diabetes mellitus, alcohol abuse, Intravenous drug abuse and hematologic diseases.In this article, we report a case of a 74‐year‐old patient with abscess formation in the Rectus Abdominis muscle after colonoscopy and polypectomy with the application of abdominal pressure techniques without any early complications. Diagnosis of RAMA was made after a Computed Tomography scan and ultrasound‐guided drainage, in addition to antibiotic therapy, were used as treatment.Although colonoscopy is considered a generally safe procedure, endoscopists should be aware of Rectus Abdominis sheath hemorrhage and RAMA in the following as a complication with the presentation of abdominal pain. Applying abdominal pressure should be done carefully To reduce minor trauma likelihood, owing to it being a predisposing factor of RAMA. [ABSTRACT FROM AUTHOR]

Nasopharyngeal tumors are rare, and schwannomas originating from this location are extremely uncommon. Schwannomas are tumors arising from the Schwann cells of peripheral nerve sheath which are neuroectodermal in origin. These are benign, slow growing, well-encapsulated tumors and are mostly seen in the head and neck region. We present a rare case of schwannoma with nasopharynx as its epicenter in an elderly female patient who presented with complaints of hematemesis, bilateral nasal obstruction and stertorous breathing. Diagnostic nasal endoscopy revealed a smooth mucosa covered globular mass occupying bilateral choana. Contrast-enhanced computed tomography of Nose and paranasal sinuses revealed a homogenous mass occupying the entire nasopharynx extending into the nasal and oropharyngeal cavities. The patient underwent Trans-nasal Endoscopic excision under general anesthesia. Nasopharyngeal tumors have a wide range of presentation and a high index of clinical suspicion combined with imaging modalities is required for diagnosis and pre operative planning. Some tumors can cause life-threatening airway obstruction due to delayed presentation and should be managed efficiently and meticulously, with endoscopic excision being a viable approach for cases confined within the nasopharynx. [ABSTRACT FROM AUTHOR]

Schwannoma is a benign neurogenic neoplasm which is arising from schwann cells of peripheral nerve sheath. It can occur in anywhere in the body. Schwannoma of sinonasal tract is extremely rare. Here we report a rare case of schwannoma of nasal tip. A 45 year old male presented with a swelling of tip of the nose, causing cosmetic deformity with no other associated symptoms. Surgical excision of the mass done by using external rhinoplasty approach. Histolopathology report of specimen showed a well circumscribed schwannoma with Antoni A and Antoni B areas. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type 2 is a hereditary disease with predisposition to the development of multiple tumors of the central and peripheral nervous system. The disease is characterized by significant variability in the clinical picture; the number of neoplasms, their location, and growth rate largely determine the severity of the course. However, assessing the rate of tumor growth requires the availability of a consistent series of instrumental studies conducted within a certain time range, which is not always available at the time of initial treatment. In this study, on the basis of quantitative (age of onset, age of examination) and qualitative (large number of intracranial tumors, large number of spinal tumors, severity of neurological symptoms, mosaic status of the genetic variant) characteristics, an alternative classification of clinical subtypes of neurofibromatosis type 2 was developed. We have revealed statistically significant differences (p-value = 0.037) in the representation of Halliday prognostic classes between the groups identified using the proposed classification, which allows us to suggest the possibility of integrating this approach into clinical practice. [ABSTRACT FROM AUTHOR]

Purpose To evaluate DVT mimicking disease in clinical practice by using ultrasonography Material and Methods Results Cystic Lesion • Baker's Cyst Enlargement of the gastrocnemio-semimembranosus bursa -Most common cystic lesions seen around the knee -Anechoic or hypoechoic fluid collection between semimembranosus and medial gastrocnemius tendons –Usually communicate with the knee joint • Ganglion Cyst Cystic structures lined by flat spindle-shaped cells and contain mucin or fluid -Usually attached to tendon sheaths -Well-defined uni- or multilocular cystic lesion without vascularity -Anechoic with hyperechoic septa, posterior enhancement Infection and Inflammation • Cellulitis - Usually results from a streptococcus pyogens or staphylococcus aureus infection - Diffuse swelling and increased echogenicity of the skin and subcutaneous tissue - Variable cobblestone appearance - Hyperemia within the subcutaneous tissues on color doppler image • Parasite infestation (cysticercosis) Caused by encysted larvae of pork tapeworm (Taenia solium) -Infection site – CNS (m/c), muslces, subcutaneous tissue, eyes, peripheral nervous system -Solitary muscular and soft tissue involvement is rare US findings -Cleary anechoic cystic lesion with well-defined smooth wall -Scolex: linear rounded structure in the cyst attached to the wall without post acoustic shadowing Lymphadenopathy Most common adenopathy in the inguinal region Differentiating between benign and malignancy by US findings • By measuring the length/transverse ratio • Malignancy ✓ Ratio <2, no echogenic hilum ✓ Rounded and marked hypoechoic lesion ✓ Irregular, blurred, angular, invasive margin • Benign ✓ Ratio >2, presence of echogenic hilum ✓ Oval and moderate echogenicity ✓ Sharp margin Neoplasm • Hemangioma • Common benign neoplasms (> 7% of all benign soft-tissue tumors) • Clinical manifestation • Pulsatile mass US findings -A complex mass with heterogeneous echogenicity -Acoustic shadowing (if phleboliths are abundant) -Low-resistance arterial flow with forward flow during Botox myonecrosis both systole and diastole Lymphoma Primary lymphoma arising in skeletal muscle is rare • Diffuse enlargement of involved structures • Typically, involve more than one muscle compartment over a long segment US findings • Ill-defined hypoechoic mass • Coarsening of fibroadipose septa • Swelling of muscle bundles Neurofibroma Benign peripheral nerve sheath tumor • 5% of all benign soft-tissue tumor • Most commonly affects patients 20–30 years of age • Malignant change is extremely rare except in neurofibromatosis 1 Localized type (m/c) • Well-circumscribed fusiform mass with entering and exiting nerve Diffuse type • Plaque-like elevation of the skin with thickening of the entire subcutis Muscular Injury Tennis Leg Caused by hyperextension of the knee and forced dorsiflexion of the ankle Rupture of the medial head of the gastrocnemius (66%) • Fluid collection between the aponeurosis of the medial head of the gastrocnemius muscle and an unruptured soleus (21%) • DVT associated with tennis leg (5%) • Snapping sensation ("pop") • Partial or complete discontinuity of involved muscle Miscellaneous Arterial aneurysm Popliteal artery aneurysms • Dilated arteries that have a transverse diameter of • 7 mm or more • Bilateral in 50%–70% • Communicating channel (neck) between the sac and the feeding artery on color Doppler scan Parrafinoma • Snowstorm appearance • Multiple, round hypoechoic nodules with calcifications Botox myonecrosis Summary Conclusion • Sonographic examination with high-frequency transducers provides detailed anatomical information of the lower extremity, and the ability to real time confirmation of the several DVT mimicking lesions. • The correlation of the clinical, laboratory and sonographic findings can help to make a specific diagnosis of DVT mimicking lesions and provide treatment strategy for these patients. [ABSTRACT FROM AUTHOR]

This document is a test answer from the journal Skeletal Radiology. It discusses the case of an incidental hip lesion found on PET-CT imaging. The MRI images show a lesion at the proximal right femur, which was isointense to muscle on protein density (PD) and hyperintense to muscle on PD fat-saturated (FS) images. The lesion had a maximum standardized uptake value (SUVmax) of 7.8 on PET-CT. A tissue core biopsy was performed, and the histological examination revealed a perineurioma. Perineuriomas are rare benign peripheral nerve sheath tumors. They are generally hypodense on CT and have nonspecific MRI signal characteristics. Perineuriomas are non-encapsulated, well-demarcated, spindle cell tumors that express antigens matching those of the normal perineurium. They usually demonstrate low FDG uptake on PET-CT. [Extracted from the article]

Background: Malignant peripheral nerve sheath tumors (MPNSTs) are rare sarcomas in domestic animals, originating from peripheral neural cells or cells associated with the peripheral nerve sheath. These tumors primarily occur in the peripheral nerves of the brachial plexus and may occasionally invade the spinal cord. Diagnosing MPNSTs is challenging owing to the primary clinical sign being progressive claudication, which can be of neurogenic or musculoskeletal origin. Thus, this study aimed to report a case of MPNST located at the C3 level in the vertebral canal, focusing on the clinical, imaging, and surgical aspects of the case. Case: A 9-year-old male mongrel dog, suffering from upper motor neuron tetraparesis, was treated for ataxia and nail dragging on the thoracic limbs. These symptoms later progressed to the pelvic limbs and eventually led to lateral decubitus. Myelotomography revealed a 2 cm neoplasm in the vertebral canal, compressing the spinal cord between the C2-C3 vertebral processes. The patient underwent decompressive surgery via a left dorsal approach to the vertebrae. A hemilaminectomy was performed between C2-C3, removing the laminar bone and exposing the spinal cord and nerve root of the segment. The mass, located in the nerve root region, was carefully separated from adjacent tissues, and removed. The tumor's histology was consistent with MPNSTs. The patient's neurological condition, which had been rapidly deteriorating, improved following spinal cord decompression surgery and mass extirpation. After a 3-day hospital stay, the patient was discharged for homecare. Five days post-surgery, the animal exhibited a return of neurological and ambulatory functions. The surgical procedure was the sole treatment method employed against this sarcoma. However, tumor recurrence was observed 270 days post-resection of the mass in the medullary canal. Given the unfavorable prognosis, the animal was euthanized. Discussion: Spinal cord tumors are categorized based on their location and segmentation relative to the spinal cord and dura mater. These categories include intramedullary, intradural-extramedullary, and extradural-extramedullary. Imaging tests such as magnetic resonance imaging (MRI) and computed tomography are more effective in locating and classifying spinal cord tumors than X-rays. Historically, myelography has been utilized to outline the subarachnoid space and ascertain the presence of spinal cord compression or expansion. However, MRI provides superior visualization. In this instance, tomography was employed to both verify the neoplasm compressing the spinal cord and to aid in surgical planning. Misdiagnosis of this condition as musculoskeletal claudication is common, leading to a delayed diagnosis of MPNSTs and an unfavorable prognosis. Hematological and biochemical tests are recommended for a general patient evaluation, but primary alterations in these tests are typically not present in patients with MPNSTs. Regarding treatment, total surgical resection of the neoplasm is most advised, as this malignant neoplasm is generally resistant to chemotherapy and radiotherapy. Given the rarity and progression of this disease, it is increasingly important to recognize the clinical signs specific to the case described, in order to establish the correct diagnostic methods and treatment protocols for each patient. Therefore, early diagnosis, grounded in a thorough clinical examination and supplemented by imaging tests, should be paired with aggressive surgical intervention. This approach aims to enhance the prognosis, quality of life, and survival rate of these patients. [ABSTRACT FROM AUTHOR]

Background and Purpose: Thalamic hypometabolism is a consistent finding in brain PET with F‐18 fluorodeoxyglucose (FDG) in patients with neurofibromatosis type 1 (NF1). However, the pathophysiology of this metabolic alteration is unknown. We hypothesized that it might be secondary to disturbance of peripheral input to the thalamus by NF1‐characteristic peripheral nerve sheath tumors (PNSTs). To test this hypothesis, we investigated the relationship between thalamic FDG uptake and the number, volume, and localization of PNSTs. Methods: This retrospective study included 22 adult NF1 patients (41% women, 36.2 ± 13.0 years) referred to whole‐body FDG‐PET/contrast‐enhanced CT for suspected malignant transformation of PNSTs and 22 sex‐ and age‐matched controls. Brain FDG uptake was scaled voxelwise to the individual median uptake in cerebellar gray matter. Bilateral mean and left‐right asymmetry of thalamic FDG uptake were determined using a left‐right symmetric anatomical thalamus mask. PNSTs were manually segmented in contrast‐enhanced CT. Results: Thalamic FDG uptake was reduced in NF1 patients by 2.0 standard deviations (p <.0005) compared to controls. Left‐right asymmetry was increased by 1.3 standard deviations (p =.013). Thalamic hypometabolism was higher in NF1 patients with ≥3 PNSTs than in patients with ≤2 PNSTs (2.6 vs. 1.6 standard deviations, p =.032). The impact of the occurrence of paraspinal/paravertebral PNSTs and of the mean PNST volume on thalamic FDG uptake did not reach statistical significance (p =.098 and p =.189). Left‐right asymmetry of thalamic FDG uptake was not associated with left‐right asymmetry of PNST burden (p =.658). Conclusions: This study provides first evidence of left‐right asymmetry of thalamic hypometabolism in NF1 and that it might be mediated by NF1‐associated peripheral tumors. [ABSTRACT FROM AUTHOR]

Objective: To investigate the clinical presentation, diagnostic strategy, treatment approach, and postoperative morbidity of neurogenic tumors in the neck region, which are rarely observed and cannot be easily distinguished from other masses of this region. Material and Methods: A retrospective analysis of the medical data of patients with histopathologically confirmed neurogenic tumors who underwent surgery at the otorhinolaryngology department over the 20 years from 2000 to 2019. Results: Twenty-one patients were evaluated. Fifteen (71%) of them were women and 6 (29%) were men, with ages of 0-75 years. Out of 21 cases, 19 (90%) were benign, while 2 (10%) cases had malignant histology. Of the patients, 14 (67%) were diagnosed with peripheral nerve sheath tumors, 5 (24%) with ganglion cell tumors, and 2 (9%) with paraganglion cell tumors. The most common presentation symptom was neck swelling. Other symptoms included pain and numbness in the arm, dyspnea, dysphagia, and snoring. Postoperative morbidities included Horner’s syndrome, vocal cord palsy, and motor weakness of the upper limp. While fine-needle aspiration cytology was not diagnostic in any of the patients. Conclusion: Neurogenic tumors located in the neck are extremely rare. Differential diagnoses of these tumors are critical to provide patients with information about possible postoperative neurological deficits and other morbidities. Neither imaging methods nor preoperative biopsies can provide clear information about the definitive diagnosis. [ABSTRACT FROM AUTHOR]

Cases: We present 2 cases of median nerve reconstruction using distal nerve transfers after resection of unusual benign median nerve tumors. Critical sensation was restored in case 1 by transferring the fourth common digital nerve to first web digital nerves. Thumb opposition was regained by transferring the abductor digiti minimi ulnar motor nerve branch to the recurrent median motor nerve branch. Critical sensation was restored in case 2 by transferring the long finger ulnar digital nerve to the index finger radial digital nerve. Conclusion: Distal nerve transfers, even with short grafts, are reliable median nerve deficit treatments, sparing the need for larger autologous nerve grafts and late tendon opponensplasties. [ABSTRACT FROM AUTHOR]

Purpose: This study sought to investigate the role of radiotherapy (RT) in addition to surgery for oncological outcomes in patients with malignant peripheral nerve sheath tumors (MPNST). Methods: In this single-center, retrospective cohort study, histopathologically confirmed MPNST were analyzed. Local control (LC), overall survival (OS), and distant metastasis-free survival (DMFS) were assessed using the Kaplan–Meier estimator. Multivariable Cox regression analysis was performed to identify factors associated with LC, OS, and DMFS. Results: We included 57 patients with a median follow-up of 20.0 months. Most MPNSTs were located deeply (87.5%), were larger than 5 cm (55.8%), and had high-grade histology (78.7%). Seventeen patients received surgery only, and 25 patients received surgery and pre- or postoperative RT. Median LC, OS, and DMFS after surgery only were 8.7, 25.5, and 22.0 months; after surgery with RT, the median LC was not reached, while the median OS and DMFS were 111.5 and 69.9 months. Multivariable Cox regression of LC revealed a negative influence of patients presenting with local disease recurrence compared to patients presenting with an initial primary diagnosis of localized MPNST (hazard ratio: 8.86, p = 0.003). Conclusions: The addition of RT to wide surgical excision appears to have a beneficial effect on LC. Local disease recurrence at presentation is an adverse prognostic factor for developing subsequent local recurrences. Future clinical and translational studies are warranted to identify molecular targets and find effective perioperative combination therapies with RT to improve patient outcomes. [ABSTRACT FROM AUTHOR]

The purpose of this study was to analyze secondary resiliency and user experience outcomes from a novel, 8-week website-based mind-body intervention (NF-Web) for adults (18+) with neurofibromatosis (NF1, NF2, and schwannomatosis), a genetic, neurocutaneous disorder characterized by nerve sheath tumors of the central and peripheral nervous system. The study design was a secondary data analysis of a single-arm, early feasibility pilot study (September 2020-May 2021) for adults with NF (N = 28). Across participants, the mean age was 46 (SD = 13.67) and included 22 females and 6 males. Participants completed baseline and posttest assessments (t-tests), as well as exit interviews (exploratory rapid data analysis). Results demonstrated that participation was associated with pre-to-post improvements in gratitude, coping, and mindfulness (p <.05). Exit interviews indicated participant enjoyment and that many would recommend NF-Web to a friend. Participants found the website easy to navigate and enjoyed NF-Web's video format. Many found transcripts useful if they had hearing differences or if English was their second language. NF-Web demonstrated initial signals of improvement in resiliency outcomes and positive user experience. Future pilot RCTs will explore these changes by NF type. [ABSTRACT FROM AUTHOR]

Tumor burden, considered a common chronic stressor, can cause widespread anxiety. Evidence suggests that cancer-induced anxiety can promote tumor progression, but the underlying neural mechanism remains unclear. Here, we used neuroscience and cancer tools to investigate how the brain contributes to tumor progression via nerve-tumor crosstalk in a mouse model of breast cancer. We show that tumor-bearing mice exhibited significant anxiety-like behaviors and that corticotropinreleasing hormone (CRH) neurons in the central medial amygdala (CeM) were activated. Moreover, we detected newly formed sympathetic nerves in tumors, which established a polysynaptic connection to the brain. Pharmacogenetic or optogenetic inhibition of CeMCRH neurons and the CeMCRHlateral paragigantocellular nucleus (LPGi) circuit significantly alleviated anxiety-like behaviors and slowed tumor growth. Conversely, artificial activation of CeMCRH neurons and the CeMCRHLPGi circuit increased anxiety and tumor growth. Importantly, we found alprazolam, an antianxiety drug, to be a promising agent for slowing tumor progression. Furthermore, we show that manipulation of the CeMCRHLPGi circuit directly regulated the activity of the intratumoral sympathetic nerves and peripheral nerve-derived norepinephrine, which affected tumor progression by modulating antitumor immunity. Together, these findings reveal a brain-tumor neural circuit that contributes to breast cancer progression and provide therapeutic insights for breast cancer. [ABSTRACT FROM AUTHOR]

To detect circulating tumor cells (CTCs) in the peripheral blood of patients with tumor, and to analyze the significance of CTC detection in tumor diagnosis and monitoring. In the present study, peripheral blood was collected from 125 patients with tumor, and CTCs were isolated and identified. Differences in CTC number and subtype detection were analyzed for different tumor diseases and stages. CTCs were detected in 122 of the 125 patients with tumor, with a positive rate of 97.6%. The number of CTCs increases in patients with vascular metastasis. The number of mesenchymal CTCs increases in patients with lymph node or vascular metastasis. The average ratio of epithelial CTCs in each positive sample decreases in the later stages of cancer compared with the earlier stages, while the average ratio of mesenchymal CTCs increases in the later stages of cancer compared with the earlier stages. The results showed that CTCs with mesenchymal phenotypes are closely related to lymph node or vascular metastasis. CTC detection can help with early diagnosis of tumor diseases. Continuous monitoring of changes in CTCs number and subtypes can assist clinical judgment of tumor disease development status and prognosis. [ABSTRACT FROM AUTHOR]

A neurofibroma is a benign peripheral nerve sheath tumor. They occur in combination with neurofibromatosis or as a solitary mass. Intraoral neurofibromas pose diagnostic difficulties, suggesting the appropriate use of diagnostic markers and clinical knowledge. Here, we report a case of intraoral neurofibroma in a 57-year-old female who reported with the complaint of painless growth in the lower left back tooth region for the past three years. Based on the clinical features, provisional diagnosis of traumatic fibroma was made. However, histopathology proved it to be a benign spindle cell lesion; upon further investigation by immunohistochemistry, it was diagnosed to be a case of neurofibroma. [ABSTRACT FROM AUTHOR]

Background: Iatrogenic nerve lesions during surgical interventions are avoidable complications that may cause severe functional impairment. Hereby, awareness of physicians and knowledge of structures and interventions at risk is of utmost importance for prevention. As current literature is scarce, we evaluated all patients treated surgically due to peripheral nerve injuries in our specialized nerve center for the presence of iatrogenic nerve lesions. Methods: We evaluated a total of 5026 patients with peripheral nerve injuries treated over a time period of 8 years in our facility for the prevalence of iatrogenic nerve injuries, their clinical presentations, time to treatment, mechanisms and intraoperative findings on nerve continuity. Results: A total of 360 (6.1%) patients had an iatrogenic cause resulting in 380 injured nerves. 76.6% of these lesions affected the main branch of the injured nerve, which were mainly the radial (30.5%), peroneal (13.7%) and median nerve (10.3%). After a mean delay of 237 ± 344 days, patients presented 23.2% with a motor and 27.9% with a mixed sensory and motor deficit. 72.6% of lesions were in-continuity lesions. Main interventions at risk are displayed for every nerve, frequently concerning osteosyntheses but also patient positioning and anesthesiologic interventions. Discussion: Awareness of major surgical complications such as iatrogenic nerve injuries is important for surgeons. An often-seen trivialization or "watch and wait" strategy results in a huge delay for starting an adequate therapy. The high number of in-continuity lesions mainly in close proximity to osteosyntheses makes diagnosis and treatment planning a delicate challenge, especially due to the varying clinical presentations we found. Diagnostics and therapy should therefore be performed as early as possible in specialized centers capable of performing nerve repair as well as salvage therapies. [ABSTRACT FROM AUTHOR]

Peripheral nerve sheath tumors (PNSTs) are a group of primary neurogenic tumors. Most of these tumors are benign. The malignant transformation could occur, especially in large tumors and those associated with neurofibromatosis type 1 (NF 1). These tumors can cause pain, nerve damage and loss of function in the affected extremities. Treatment usually includes surgery to remove the tumor or observation. Benign peripheral nerve sheath tumors (BPNST) include schwannoma, neurofibroma, and perineurium. This study aims to evaluate the demographic data, admission complaints, diagnosis, and surgical treatment steps of the patients who were operated on due to peripheral nerve sheath tumors and to compare the data with the literature. In this study, a retrospective examination was made of patients who presented with complaints of pain and swelling and were treated surgically in the Orthopedics and Traumatology Clinic of the 3rd Step University Hospital and diagnosed with BPNST between January 2010 and April 2022. The study included 107 patients diagnosed with benign peripheral nerve sheath tumors. 56 of 107 patients were excluded because the tumor was around the spine, head and neck. A total of 51 patients, 31 schwannomas, 12 neurofibroma, three traumatic neuromas, three plexiform schwannoma and two plexiform neurofibroma, were evaluated, and the data were analyzed. The most common subtype of BPNST was determined to be schwannoma and followed by neurofibroma. Benign nerve tumors originate from the nerve sheath. The most common are schwannoma, followed by neurofibromas. Typically surgical excision is recommended for BPNTS causing pain, swelling or other symptoms. Following surgical treatment, temporary postoperative symptoms could occur, like pain, paraesthesia, and sensory or motor function of the affected nerve. A biopsy should be planned when malignancy is suspected, and an experienced team should diagnose and treat these patients. [ABSTRACT FROM AUTHOR]

Neurofibroma is a benign tumor of the peripheral nervous system affecting Schwann cells as well as neural sheath cells. It is usually considered as a component of Von Recklinghausen's disease, but solitary lesions have also been reported, though not very frequently. It is mostly reported on the skin. In the head and neck region, trigeminal nerve and the cervical nerves are frequently affected; in the oral cavity, tongue is the most commonly affected site. Intra-osseous neurofibromas of the oral cavity are extremely rare and only 22 cases have been reported in the last two decades. The present review is an attempt to know if there is any clinical or radiological feature that can assist in the diagnosis of solitary intra-osseous neurofibroma of the jaws? The literature was reviewed from 01.01.2000 to 05.06.2022 exclusively for case reports, case series, and reviews using the keywords: neurofibroma; neurinoma, maxilla; mandible; jaws, single; solitary; one. Search engines: PubMed Central, Lilac, and Science Direct were used by applying the Boolean operator "OR" and "AND". The review has been submitted for registration in PROSPERO (receipt 340775). [ABSTRACT FROM AUTHOR]

Neurofibroma is the most common type of peripheral nerve neoplasm arising from a mixture of cell types, including schwann cells and perineurial fibroblasts. We report two unusual cases where patients presented with intraosseous swelling of the jaw. A complete examination followed by Imaging and histopathological examination were advised. Imaging showed ill-defined radiolucency in one case and well defined corticated radiolucency with soap-bubble appearance in the other case. Biopsy with adjuvant immunohistochemistry revealed features suggestive of neurofibroma. Both cases were managed surgically. The second case in the male patient, also showed multiple recurrences and subsequent transformation into atypical neurofibroma. In spite of being a benign tumor, neurofibroma is locally aggressive. Commonly found in soft tissues of the body, neurofibromas are rare in the head and neck region. But the intraosseous location of this tumor in the mandible is an exceptional case. [ABSTRACT FROM AUTHOR]

Malignant peripheral nerve sheath tumor (MPNST) is a rare malignancy of nervous tissue. The oral incidence of this lesion is extremely low. MPNST can occur sporadically or in association with neurofibromatosis. We report a rare intraosseous MPNST in the mandible of a 33-year-old female patient with neurofibromatosis type 1. [ABSTRACT FROM AUTHOR]

Pheochromocytoma (PCC) occurs in 4% of pediatric neurofibromatosis type 1 (NF1) patients and is characterized by epinephrine and norepinephrine secretion. Herein, we report the first case of dopamine-secreting PCC in a 13-year-old patient with NF1. A left adrenal mass was incidentally found on abdominal computed tomography (CT) during hypertension workup. Fractionated 24-hour urine metanephrine excretion was normal, but urine dopamine level was elevated. Focal 123I-metaiodobenzylguanidine uptake was observed on single-photon emission tomography/CT (SPECT/CT). Surgery was delayed due to small tumor size, vague symptoms, and increased dopamine level. After 6 months, focal significant uptake of the lesion on 6-[18F]fluoro-L-3,4-dihydroxyphenylalanine (18F-FDOPA) PET/CT increased and tumor size increased on abdominal CT. Laparoscopic resection was performed, and the mass was histologically confirmed as PCC. Currently, the vital signs of the patient are stable, urine dopamine level is normal, and there is no abnormal uptake of 18F-FDOPA PET/CT. This study reports a rare case of dopamine-secreting PCC. A multidisciplinary approach and focused examination are needed in metanephrine-negative, high-risk PCC patients. [ABSTRACT FROM AUTHOR]

Neurofibroma (NF) is a benign tumor in the peripheral nervous system, but it can infiltrate around structures and cause functional impairment and disfigurement. We incidentally found that the expression of CD16a (Fc gamma receptor IIIA) was increased in NFs compared to in non-neoplastic nerves and hypothesized that CD16 could be relevant to NF progression. We evaluated the expressions of CD16a, CD16b, CD68, TREM2, Galectin-3, S-100, and SOX10 in 38 cases of neurogenic tumors (NF, n = 18; atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP), n = 14; and malignant peripheral nerve sheath tumor (MPNST), n = 6) by immunohistochemical staining. In the tumor microenvironment (TME) of the ANNUBPs, CD16a and CD16b expression levels had increased more than in the NFs or MPNSTs. CD68 and Galectin-3 expression levels in the ANNUBPs were higher than in the MPNSTs. Dual immunohistochemical staining showed an overlapping pattern for CD16a and CD68 in TME immune cells. Increased CD16a expression was detected in the ANNUBPs compared to the NFs but decreased with malignant progression. The CD16a overexpression with CD68 positivity in the ANNUBPs potentially reflects that the TME immune modulation could be associated with NF progression to an ANNUBP. Further studies should explore the role of CD16a in immunomodulation for accelerating NF growth. [ABSTRACT FROM AUTHOR]

Objective: In epidemiological and experimental research, high folic acid intake has been demonstrated to accelerate tumor development among populations with genetic and/or molecular susceptibility to cancer. Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder predisposing affected individuals to tumorigenesis, including benign plexiform neurofibromas; however, understanding of factors associated with tumor risk in NF1 patients is limited. Therefore, we investigated whether pregestational folic acid intake modified plexiform-like peripheral nerve sheath tumor risk in a transgenic NF1 murine model. Results: We observed no significant differences in overall survival according to folate group. Relative to controls (180 days), median survival did not statistically differ in deficient (174 days, P = 0.56) or supplemented (177 days, P = 0.13) folate groups. Dietary folate intake was positively associated with RBC folate levels at weaning, (P = 0.023, 0.0096, and 0.0006 for deficient vs. control, control vs. supplemented, and deficient vs. supplemented groups, respectively). Dorsal root ganglia (DRG), brachial plexi, and sciatic nerves were assessed according to folate group. Mice in the folate deficient group had significantly more enlarged DRG relative to controls (P = 0.044), but no other groups statistically differed. No significant differences for brachial plexi or sciatic nerve enlargement were observed according to folate status. [ABSTRACT FROM AUTHOR]

Sacral masses can be removed using anterior, posterior, or combined approaches. Achieving total sacrectomy through a posterior-only approach results in a shorter procedure time, minimal tissue damage, and a reduced risk of complications. In this study, we aimed to share our experience with performing total sacrectomy using a posterior-only approach in 26 patients and to assess their clinical outcomes at our center. This retrospective study examines the clinical progression, surgical response, and outcomes of 26 patients with various sacral mass pathologies. We accessed patient information from our hospital records. The study included 14 men (54%) and 12 women (46%), with an average age of 49.8 years. Most cases had a normal body mass index, while 6 were overweight. Sacrectomy was performed at a high level in 12 patients and at a middle level in 14 patients. In addition to pain, motor deficits were observed in 9 patients, and sphincter dysfunction was found in 5. Preoperative embolization was conducted for 11 patients. The most prevalent lesions were chordoma (8 patients), malignant peripheral nerve sheath tumor (4 patients), giant cell tumor (3 patients), and solitary plasmacytoma (3 patients). Only 1 patient experienced a temporary partial motor deficit after surgery. There were no instances of cerebrospinal fluid leakage. Five patients experienced local recurrence, and 1 had distant metastasis. Performing sacrectomy for large or giant sacral tumors through a posterior approach is both feasible and safe, resulting in reduced morbidity and no significant change in overall survival. [ABSTRACT FROM AUTHOR]

Epithelioid malignant peripheral nerve sheath tumor (EMPNST) is a rare soft tissue sarcoma. The authors report the first case of EMPNST arising in the ovary (OEMPNST). A 7‐year‐old child underwent left salpingo‐oophorectomy due to tumor rupture and the pathology suggested a juvenile granulosa cell tumor (JGCT). Six cycles of bleomycin, etoposide, and carboplatin were administrated. A second surgery was applied due to relapse 4 months after the last cycle of chemotherapy, and the pathology revealed JGCT with extensive abdominopelvic seedings even after interinstitutional consultation in two hospitals. Next‐generation sequencing demonstrated EWSR1 exon12‐CREM exon6 fusion with neurofibromatosis‐2 gene deletion, and no mutation was detected in either FOXL2 or DICER1. However, pathology consultation in two other hospitals suggested the diagnosis of OEMPNST, and additional immunohistochemical (IHC) staining revealed positive H3K27me3. Nonetheless, she was treated with nine courses of chemotherapy but experienced a second recurrence of extensive abdominal metastases approximately 3 months after ceasing chemotherapy. Neither elevated tumor makers nor abnormal sex hormones level was noted since the initial presentation. Repeated cytoreductive surgery was conducted and IHC staining showed expression of SOX10, S‐100, INI‐1, and α‐inhibin in tumor tissue. A final diagnosis of OEMPNST with EWSR1‐CREM fusion was established, indicating that the probability of OEMPNST could not be excluded when treatment for JGCT showed poor response. A comprehensive evaluation including biological characteristics, morphology, IHC staining, and molecular features is vital in the differential diagnosis between JGCT and OEMPNST. Synopsis: The probability of epithelioid malignant peripheral nerve sheath tumor arising in the ovary cannot be excluded when treatment for juvenile granulosa cell tumor shows poor response. Comprehensive evaluation is vital in the differential diagnosis. [ABSTRACT FROM AUTHOR]