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Magnetic resonance-guided focused ultrasound (MRgFUS) is a noninvasive, incisionless, radiation-free technology used to ablate tissue deep within the body. This technique has gained increased popularity following FDA approval for treatment of pain related to bone metastases and limited approval for treatment of osteoid osteoma. MRgFUS delivers superior visualization of soft tissue targets in unlimited imaging planes and precision in targeting and delivery of thermal dose which is all provided during real-time monitoring using MR thermometry. This paper provides an overview of the common musculoskeletal applications of MRgFUS along with updates on clinical outcomes and discussion of future applications.

Introduction: Desmoid tumors (DT) are rare, locally invasive tumors originating from connective tissue. Surgical intervention is no longer the standard treatment for DT, as systemic therapy gradually replaces it due to its superior efficacy. Despite the availability of various treatment modalities, there is a need for a first-line systemic treatment regimen that offers both effective disease control and acceptable safety profiles. Methods: To assess the efficacy and safety of different systemic treatment agents for DT, we conducted a systematic review and network meta-analysis. Eligible studies were identified through searches of PubMed, Embase, and the Cochrane Library databases, and data were extracted according to predefined inclusion criteria. Results: Three articles and clinical data from 295 patients with progressive and refractory DT were included in this Bayesian network meta-analysis. When considered by objective response rate (ORR), the efficacy of γ-secretase inhibitor versus placebo (OR 0.12, 95%CI 0.01–1.68) is superior to that of TKI (OR 0.49, 95%CI 0.03–7.62) and chemotherapy (OR 0.90, 95%CI 0.02–40.00). Vascular endothelial growth factor (VEGF)-TKI (OR, 0.09; 95% CI, 0.01–1.79) seemed to have the highest improvement in terms of 1-yr PFS rate, while chemotherapy seemed to have the highest improvement across all therapies in terms of 2-yr PFS rate across all therapies (OR, 0.06; 95 percent CI, 0.01–2.98). In terms of safety, the incidence of AEs is highest for γ-secretase inhibitor versus placebo (OR 0.16, 95%CI 0.02–1.55), while TKI is associated with the least AEs (OR 0.62, 95%CI 0.06–6.97). Conclusion: γ-secretase inhibitor provides superior local control of tumors, while chemotherapy and TKI may offer better long-term survival benefits. Among the three regimens, TKI demonstrated better treatment-related safety. These findings have important implications for guiding clinical practice in systemic treatment of DT. Highlights: The study conducted a systematic review and Bayesian network meta-analysis to evaluate the efficacy and safety of systemic treatment options for progressive and refractory desmoid tumors. The analysis included 3 RCT studies, and the primary clinical endpoints were progression-free survival and objective response rate. The network meta-analysis showed that γ-secretase inhibitors have better tumor response and more severe toxicity, while chemotherapy and TKI may have better long-term survival benefits. [ABSTRACT FROM AUTHOR]

Background: The medical management of DT comprises tyrosine kinase inhibitors (TKIs), hormonal agents, anti-inflammatory drugs with the recently approved gamma secretase inhibitor nirogacestat being the current standard of care. Real-world data on evolving treatment landscapes of DT remains scarce. Methods: This is a retrospective study of patients with DT registered between 1995 and 2020 at All India Institute of Medical Sciences, New Delhi and Tata Medical Center, Kolkata. Baseline characteristics were analyzed in form of median values and interquartile range. Categorical and continuous variables were compared by chi square and independent samples T- tests respectively. Anxiety, depression and QoL were prospectively measured among 30 patients using Hospital Anxiety and Depression (HADS) and Functional Assessment of Cancer Therapy-General (FACT-G) scales respectively between 2022 to 2023. Results: 200 patients were included with a male-predominant (n=111, 55.5%) population and median age 26.5 (2.5-75) years. Extremity (n=100, 50%) and abdomen (n=65, 32.5%) were commonest primary sites and median of 2 (1-4) lines of treatment were received. First-line included surgery (n=116, 58%), systemic therapy (n=67, 33.5%), radiotherapy (10, n=5%) and active surveillance (n=7, 3.5%). First-line systemic agents included tamoxifen (n=55, 27.5%), imatinib (n=7, 3.5%), sorafenib (n=1, 0.5%) and chemotherapy (n=4, 2%). 2019 onward, 3% and 63% underwent active surveillance and surgery respectively. Best radiological response obtained with tamoxifen was stable disease (SD) (n=76, 59%) and partial response (PR) (n=31, 24.2%). Best radiological response obtained with sorafenib was PR (n=17, 60.7%) and SD (n=9, 32.1%). Thirty patients underwent HADS and FACT-G scale assessment. Mean HADS-Anxiety subscale score was 3.6 (+/-3.9 SD) and HADS-Depression sub-scale score was 2.6 (+/-3.5 SD) with clinically significant anxiety and depression in 2 (6.7%) patients each. The overall mean FACT-G score was 87.5 (+/-12.6 SD) and lower mean physical well-being (p=0.006) and emotional well-being (0.017) scores were significantly associated with higher HADS-anxiety (>/=8) scores. Conclusions: Assessment of anxiety, depression and QoL are paramount to gauge the psychological impact of DT. This study gives an overview of clinical and management profile of patients with DT in India, with limitations of selection bias, heterogeneous population and small sample size for QoL assessment. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective Material and Methods Results Conclusion To summarize published information about the desmoplastic fibroma of the gnathic bones into a descriptive analysis of the main features of this condition.A systematic review according to the PRISMA guidelines was conducted. Electronic search was performed in four databases and in the gray literature. Case reports and case series were included. Frequencies were obtained for descriptive analysis.We identified 66 articles, for a total of 96 cases. Female patients (55.8%) in the first decade of life (40.6%) with a mean age of 18.2 years were more affected. The mandible was the most affected bone with 81.2% of the cases. The main clinical feature was painless swelling (54.2%). Most of the imaging examinations (radiological, computed tomography, and magnetic resonance) showed well‐defined radiolucencies (65.4%) lesions. The treatment was surgical removal in all cases. The recurrence rate was 10.8% and all in the posterior mandible. Spindle cell fibroblasts in a collagenized stroma were often described in the histopathological features. Vimentin, smooth muscle actin, and β‐catenin were common immunohistochemical markers.Desmoplastic fibroma is a locally aggressive lesion that commonly affects the jaws in children. Histopathology is essential for diagnosis, and the pathogenesis of this tumor should be further investigated. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Introduction Desmoid tumors (DT) are rare, locally invasive tumors originating from connective tissue. Surgical intervention is no longer the standard treatment for DT, as systemic therapy gradually replaces it due to its superior efficacy. Despite the availability of various treatment modalities, there is a need for a first-line systemic treatment regimen that offers both effective disease control and acceptable safety profiles. Methods To assess the efficacy and safety of different systemic treatment agents for DT, we conducted a systematic review and network meta-analysis. Eligible studies were identified through searches of PubMed, Embase, and the Cochrane Library databases, and data were extracted according to predefined inclusion criteria. Results Three articles and clinical data from 295 patients with progressive and refractory DT were included in this Bayesian network meta-analysis. When considered by objective response rate (ORR), the efficacy of γ-secretase inhibitor versus placebo (OR 0.12, 95%CI 0.01–1.68) is superior to that of TKI (OR 0.49, 95%CI 0.03–7.62) and chemotherapy (OR 0.90, 95%CI 0.02–40.00). Vascular endothelial growth factor (VEGF)-TKI (OR, 0.09; 95% CI, 0.01–1.79) seemed to have the highest improvement in terms of 1-yr PFS rate, while chemotherapy seemed to have the highest improvement across all therapies in terms of 2-yr PFS rate across all therapies (OR, 0.06; 95 percent CI, 0.01–2.98). In terms of safety, the incidence of AEs is highest for γ-secretase inhibitor versus placebo (OR 0.16, 95%CI 0.02–1.55), while TKI is associated with the least AEs (OR 0.62, 95%CI 0.06–6.97). Conclusion γ-secretase inhibitor provides superior local control of tumors, while chemotherapy and TKI may offer better long-term survival benefits. Among the three regimens, TKI demonstrated better treatment-related safety. These findings have important implications for guiding clinical practice in systemic treatment of DT.

Desmoid tumors (DTs) are rare and locally aggressive with a high rate of local recurrence even with optimal surgical resection. Systemic treatments are often utilized for desmoid cases with high risk of surgical morbidity or for local and symptomatic control of recurrent disease. However, the systemic treatment options for DTs are limited with limited responses. Avapritinib is a tyrosine kinase inhibitor (TKI) approved in 2020 for adults with unresectable or metastatic gastrointestinal (GI) stromal tumors (GISTs) harboring a platelet‐derived growth factor receptor alpha (PDGFRA) Exon 18 mutation, including D842V mutations. In this case report, we describe a 55‐year‐old man with a history of D842V‐mutant gastric GIST who presented several years after complete resection of the GIST with an enlarging soft tissue mass in the small intestine. After a nondiagnostic biopsy, the patient was started on avapritinib due to concerns for recurrent D842V‐mutant GIST. The tumor had a partial response to treatment by RECIST 1.1 criteria, and the patient underwent surgical resection. The final pathology report revealed a sporadic DT. To our knowledge, this is the first known description of the activity of avapritinib in the treatment of a sporadic mesenteric DT, which is relevant given the limited treatment options for patients with this diagnosis. This clinical finding may be worth exploring in a dedicated clinical trial. [ABSTRACT FROM AUTHOR]

BackgroundThe medical management of DT comprises tyrosine kinase inhibitors (TKIs), hormonal agents, anti-inflammatory drugs with the recently approved gamma secretase inhibitor nirogacestat being the current standard of care. Real-world data on evolving treatment landscapes of DT remains scarce.MethodsThis is a retrospective study of patients with DT registered between 1995 and 2020 at All India Institute of Medical Sciences, New Delhi and Tata Medical Center, Kolkata. Baseline characteristics were analyzed in form of median values and interquartile range. Categorical and continuous variables were compared by chi square and independent samples T- tests respectively. Anxiety, depression and QoL were prospectively measured among 30 patients using Hospital Anxiety and Depression (HADS) and Functional Assessment of Cancer Therapy-General (FACT-G) scales respectively between 2022 to 2023.Results200 patients were included with a male-predominant (n=111, 55.5%) population and median age 26.5 (2.5-75) years. Extremity (n=100, 50%) and abdomen (n=65, 32.5%) were commonest primary sites and median of 2 (1–4) lines of treatment were received. First-line included surgery (n=116, 58%), systemic therapy (n=67, 33.5%), radiotherapy (10, n=5%) and active surveillance (n=7, 3.5%). First-line systemic agents included tamoxifen (n=55, 27.5%), imatinib (n=7, 3.5%), sorafenib (n=1, 0.5%) and chemotherapy (n=4, 2%). 2019 onward, 3% and 63% underwent active surveillance and surgery respectively. Best radiological response obtained with tamoxifen was stable disease (SD) (n=76, 59%) and partial response (PR) (n=31, 24.2%). Best radiological response obtained with sorafenib was PR (n=17, 60.7%) and SD (n=9, 32.1%). Thirty patients underwent HADS and FACT-G scale assessment. Mean HADS-Anxiety subscale score was 3.6 (+/-3.9 SD) and HADS-Depression sub-scale score was 2.6 (+/-3.5 SD) with clinically significant anxiety and depression in 2 (6.7%) patients each. The overall mean FACT-G score was 87.5 (+/-12.6 SD) and lower mean physical well-being (p=0.006) and emotional well-being (0.017) scores were significantly associated with higher HADS-anxiety (>/=8) scores.ConclusionsAssessment of anxiety, depression and QoL are paramount to gauge the psychological impact of DT. This study gives an overview of clinical and management profile of patients with DT in India, with limitations of selection bias, heterogeneous population and small sample size for QoL assessment.

A desmoid tumor is a clonal fibroblast proliferation, occurring in deep soft tissues with a significant recurrence tendency. Aggressive fibromatosis is a rare disease. The prevalence in the population ranges from 2 to 4 cases per million. Mentioned neoplasms are highly unpredictable in terms of development. Typically, in the course of desmoid tumors, metastases do not occur, but they often infiltrate the surrounding tissues, which may be associated with numerous complications. There are currently no randomized standards of therapy designated, which is undoubtedly a challenge when referring to treatment. To a 37 year old patient, due to a pathological mass in the abdomen, the MR examination was performed. It showed the presence of an irregular, heterogeneous structure on the right side of the abdominal cavity. A laparotomy was performed. During the procedure adhesions were released and the giant abdominal tumor was removed in one block with part of the duodenum, caecum, ascending colon and part of ileum. End-to-end duodenal anastomosis and stapled, side-to-side ileo-transverse anastomosis were used. The surgical field was being drained. The postoperative course was uneventful. Tissue material was collected for a routine, histopathological examination in which the intra-abdominal form of fibromatosis was diagnosed. The macroscopic image describes a tumor with dimensions of 25.0 cm x 25.0 cm x 20.0 cm.

Desmoid tumors (DTs) are rare, locally aggressive tumors. When left untreated, DT can rapidly proliferate and occupy a significant portion of the anterior abdomen, making postresection reconstruction challenging. We present a 32-year-old female with a previous history of cesarean section and a 10-month history of two rapidly growing anterior abdominal wall (AAW) masses. There was no clinical or radiologic evidence of distant metastases. Abdominopelvic computed tomography scan showed no intra-abdominal extension. She had a wide local excision of the masses using an “abdominoplasty” technique and reconstruction of the extensive musculofascial defect with fascia lata grafts and polypropylene mesh. A histologic diagnosis of desmoid-type fibromatosis was made. The patient is scheduled for adjuvant radiotherapy and desires future pregnancies. This case report highlights the reconstructive considerations and challenges associated with surgical resection of huge AAW DT in an oncoplastic unit in a low- and middle-income country.

Introduction: Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea, early satiety, abdominal pain, and gastrointestinal bleeding. Although histologically benign, such a tumor may become locally invasive, and aggressive forms contribute to significant morbidity and mortality. Case Presentation: We report the case of a 52-year-old West African male with a 1-year history of intermittent hematochezia and intermittent bloating. Colonoscopy revealed a 4-mm rectal polyp and internal hemorrhoids. Esophagogastroduodenoscopy revealed a severe duodenal stricture 4–5 cm distal to the ampulla. Further work-up with contrast-enhanced computed tomography of the abdomen and pelvis revealed a 5.0 × 3.7 × 4.3-cm mass within the mesentery, encasing the distal portion of the duodenum. Exploratory laparotomy was performed, and the mass was excised from the jejunum. Histopathology findings and immunohistochemical analysis revealed the diagnosis to be mesenteric fibromatosis (desmoid tumor), positive for nuclear β-catenin and SMA, and negative expression of STAT6, desmin, caldesmon, pan-cytokeratin, or c-KIT. The Ki67 index is

Background: Desmoid tumor (DT) is a rare locally aggressive but non-metastatic mesenchymal soft tissue neoplasm that predominantly occurs in the abdominal wall, abdominal cavity, and extremities. Its occurrence in the mesentery is relatively uncommon. Case reports: This article reports two cases of desmoid tumor treated at the Department of Gastrointestinal Surgery, Weifang People's Hospital. The first case was a 59-year-old male patient who had previously undergone surgery for esophagogastric junction cancer. Postoperatively, he developed an intraabdominal mass that rapidly increased in size within three months. The second case was a 60-year-old male patient who incidentally discovered a mass in the left lower abdomen. Both patients underwent surgical treatment, and the postoperative pathological diagnosis was mesenteric desmoid tumor. Conclusion: The treatment of desmoid tumor remains challenging. Simple surgical resection often yields unsatisfactory outcomes, and the efficacy of adjuvant radiotherapy and chemotherapy is also limited. Further research and clinical practice are necessary to improve diagnostic and therapeutic strategies, aiming to enhance patient survival and quality of life. [ABSTRACT FROM AUTHOR]

Background: Abdominal desmoid tumors (DTs) are rare soft-tissue neoplasms known for their relatively high local recurrence rate. This study aims to elucidate the clinicopathological features and investigate prognostic factors related to abdominal DTs across various tumor locations. Methods: From January 2000 to January 2021, patients diagnosed with abdominal DTs who underwent complete resection at the Cancer Hospital, Chinese Academy of Medical Sciences, were included in this study. Thorough collection and review of clinicopathologic characteristics and follow-up data were performed. Prognostic factors, including age at presentation, sex, tumor location, size, and proximity to nerves or vasculature, were meticulously analyzed to assess their impact on recurrence-free survival. Results: A cohort of 226 patients diagnosed with abdominal DTs was categorized into two groups based on tumor site: the abdominal wall group (n = 132) and the intra-abdominal cavity group (n = 94). Distinct clinicopathological features and prognoses were observed between abdominal wall DTs and intra-abdominal DTs. During a median follow-up of 60 months, 24 patients (10.2%) experienced local recurrence. Univariate and multivariate analyses identified intra-abdominal tumors, tumor size >10cm, and positive margins as independent risk factors associated with poor prognosis. Conclusion: Abdominal wall DTs demonstrate different clinicopathological characteristics and better prognoses compared to intra-abdominal DTs. By achieving negative margins, patients with abdominal wall DTs can achieve favorable therapeutic outcomes and prognosis through curative resection. [ABSTRACT FROM AUTHOR]

Desmoid tumors (DTs) are non-metastasizing and locally aggressive soft-tissue mesenchymal neoplasms. Those that become enlarged often become locally invasive and cause significant morbidity. DTs have a varied pattern of clinical presentation, with up to 50–60% not growing after diagnosis and 20–30% shrinking or even disappearing after initial progression. Enlarging tumors are considered unstable and progressive. The management of symptomatic and enlarging DTs is challenging, and primarily consists of chemotherapy. Despite wide surgical resection, DTs carry a rate of local recurrence as high as 50%. There is a consensus that contrast-enhanced magnetic resonance imaging (MRI) or, alternatively, computerized tomography (CT) is the preferred modality for monitoring DTs. Each uses Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST 1.1), which measures the largest diameter on axial, sagittal, or coronal series. This approach, however, reportedly lacks accuracy in detecting response to therapy and fails to detect tumor progression, thus calling for more sophisticated methods. The objective of this study was to detect unique features identified by deep learning that correlate with the future clinical course of the disease. Between 2006 and 2019, 51 patients (mean age 41.22 ± 15.5 years) who had a tissue diagnosis of DT were included in this retrospective single-center study. Each had undergone at least three MRI examinations (including a pretreatment baseline study), and each was followed by orthopedic oncology specialists for a median of 38.83 months (IQR 44.38). Tumor segmentations were performed on a T2 fat-suppressed treatment-naive MRI sequence, after which the segmented lesion was extracted to a three-dimensional file together with its DICOM file and run through deep learning software. The results of the algorithm were then compared to clinical data collected from the patients' medical files. There were 28 males (13 stable) and 23 females (15 stable) whose ages ranged from 19.07 to 83.33 years. The model was able to independently predict clinical progression as measured from the baseline MRI with an overall accuracy of 93% (93 ± 0.04) and ROC of 0.89 ± 0.08. Artificial intelligence may contribute to risk stratification and clinical decision-making in patients with DT by predicting which patients are likely to progress. [ABSTRACT FROM AUTHOR]

Background: Head and neck fibromatoses (HNFs) are a rare, diverse group of soft tissue tumors characterized by an abnormal proliferation of fibroblasts. Available literature on these tumors is limited to case reports and small single‐institutional studies. Objective: We aim to provide demographic, socioeconomic, tumor‐related, and treatment characteristics of HNFs. Design: Retrospective cohort analysis using the National Cancer Database (NCDB). Methods: The NCDB was queried for fibromatosis‐related histologic codes located within the head and neck region. Various factors were analyzed. Univariate and multivariate survival analyses were performed. Results: Between 2004 and 2016, 130 patients were included in the analyses. Average age was 57.4 years old with a predominance of White (83.6%) males (61.5%). Non‐desmoid HNFs accounted for 60%–70% of the tumors. The salivary gland was the most common location (38.5%) and more than half of the tumors were high grade. The majority were treated surgically (90.8%) and 25% had positive margins. Mean and median overall survival (OS) were 98.9 and 135.4 months, respectively. Surgery is associated with better OS than nonsurgical alternatives. Addition of adjuvant treatments was not associated with differences in survival. Conclusion: In the largest study to date, we describe demographic, socioeconomic, tumor‐related, and treatment patterns of patients with this rare disease. These tumors are most frequently present in middle‐aged males with high‐grade histology. Most are treated surgically and positive surgical margins are common. Surgery has better OS than nonsurgical alternatives. While adjuvant radiation has become more common, we found no difference in survival compared to surgery alone. Level of Evidence: 4 Laryngoscope, 134:2228–2235, 2024 [ABSTRACT FROM AUTHOR]

Desmoid tumors (DTs) are rare fibroblastic proliferations, characterized by infiltrative growth and a propensity for local recurrence. Traditional strategies such as surgery, radiotherapy, and chemotherapy are the mainstays of treatment, each with its limitations and associated risks. The trend in DT management leans toward a "wait-and-see" strategy, emphasizing active surveillance supported by continuous MRI monitoring. This approach acknowledges the unpredictable nature of the disease, and a multidisciplinary management of DT requires a nuanced approach, integrating traditional therapies with emerging interventional techniques. This review highlights the emerging role of minimally invasive interventional radiological technologies and discusses interventional radiology techniques, including chemical, radiofrequency, microwave, cryoablation, and high-intensity focused ultrasound ablations as well as transarterial embolization. [ABSTRACT FROM AUTHOR]

Desmoid tumors (DTs) are rare, locally aggressive tumors. When left untreated, DT can rapidly proliferate and occupy a significant portion of the anterior abdomen, making postresection reconstruction challenging. We present a 32‑year‑old female with a previous history of cesarean section and a 10‑month history of two rapidly growing anterior abdominal wall (AAW) masses. There was no clinical or radiologic evidence of distant metastases. Abdominopelvic computed tomography scan showed no intra‑abdominal extension. She had a wide local excision of the masses using an “abdominoplasty” technique and reconstruction of the extensive musculofascial defect with fascia lata grafts and polypropylene mesh. Ahistologic diagnosis of desmoid‑type fibromatosis was made. The patient is scheduled for adjuvant radiotherapy and desires future pregnancies. This case report highlights the reconstructive considerations and challenges associated with surgical resection of huge AAW DT in an oncoplastic unit in a low‑ and middle‑income country. [ABSTRACT FROM AUTHOR]

Copyright of Polish Otorhinolaryngological Review / Polski Przegląd Otorynolaryngologiczny (Index Copernicus) is the property of Index Copernicus International and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Desmoid tumors are locally aggressive, benign neoplasms originating in connective tissues. Although the exact pathophysiology remains unknown, antecedent trauma or surgery are believed to be important contributing factors. The occurrence of paraspinal desmoid tumor in pediatric patients is extremely uncommon. Here, we present an exceedingly rare case of a pediatric patient with no surgical or family history who developed a paraspinal desmoid tumor. A 9-year-old female patient presented with 4 months of progressive back pain, right lower extremity weakness, and numbness. Spinal imaging revealed a left epidural paraspinal mass compressing her thoracic spinal cord and extending into the left thoracic cavity. A multidisciplinary approach with neurosurgery and thoracic surgery enabled gross total resection of the lesion. The patient had complete resolution of her symptoms with no signs of residual tumor on postoperative imaging. Pathology revealed a desmoid tumor that avidly stained for beta-catenin. On her last followup, she developed a recurrence, to which she was started on sorafenib therapy. Desmoid tumors are rare connective tissue neoplasms that often occur after local tissue trauma, such as that caused by surgery. This report presents a rare case of a pediatric paraspinal desmoid tumor that occurred in a patient with no surgical or family history. Such tumors should undergo surgical resection for symptomatic relief and tissue diagnosis. Close clinical and radiographic surveillance are essential in these patients due to the high recurrence rates of desmoid tumor. [ABSTRACT FROM AUTHOR]

Purpose: Desmoid tumor (DT) is a rare monoclonal, fibroblastic proliferation characterized by a variable and often unpredictable clinical course. Initial active surveillance is recommended by current guideline, and surgery is one of the main therapies for DT. Predicting the prognosis and outcome of active surveillance for intra-abdominal DT is pressing issue. Methods: The study included eighteen patients with intra-abdominal DT. Metabolic tumor volume (MTV), total lesion glycolysis (TLG), and maximum standardized uptake value (SUVmax) were measured. We analyzed their relationship with the outcome of active surveillance, as well as clinical, prognostic, and pathological data. Results: The MTV and TLG of recurrent DT were significantly higher than those of non-recurrent DT (P < 0.001 and P = 0.00, respectively). The ROC curve suggested that the appropriate cutoff values for distinguishing recurrent DT from non-recurrent DT were 760.8 for MTV (sensitivity = 1, specificity = 0.857 and AUC = 0.929), and 1318.4 for TLG (sensitivity = 1, specificity = 0.786, and AUC = 0.911). The cutoff values of MTV and TLG significantly correlated with PFS using the Kaplan–Meier method (P = 0.002 and P = 0.007, respectively). MTV and TLG could distinguish DTs with subsequent progression from stable ones (P = 0.004 and P = 0.004, respectively). The ROC curve suggested that the appropriate cutoff values for distinguishing DTs with subsequent progression from stable ones were 197.1 for MTV (sensitivity = 0.9, specificity = 1, and AUC = 0.900), and 445.45 for TLG (sensitivity = 0.9, specificity = 1, and AUC = 0.900). Conclusion: Volume-based 18F-FDG-PET can predict prognosis of intra-abdominal DT. MTV and TLG can predict the outcome of active surveillance for intra-abdominal DT. MTV and TLG can potentially be predictors of surgical risk and difficulty. [ABSTRACT FROM AUTHOR]

Abstract Background Precision surgery is becoming increasingly important in the field of Orthopaedic Oncology. Image-guided percutaneous cryosurgery (CRA) has emerged as a valid treatment modality for extra-abdominal desmoid tumors (EDTs). To date, most CRA procedures use CT-based guidance which fails to properly characterize tumor segments. Computer-guided MRI navigation can address this issue however, the lack of a fixed landmark for registration remains a challenge. Successful CRA correlates directly with precision approaches facilitated by intraoperative imaging guidance. This is the first study that attempts to assess the feasibility and efficacy of a novel approach of using skin fiducial markers to overcome the challenge of a MRI-based navigation CRA for symptomatic or progressive EDTs. Methods In this retrospective study conducted between 2018 and 2020, 11 patients at a single center with symptomatic or progressive EDTs were treated with CRA using intraoperative MRI navigation. Fifteen cryosurgery procedures were performed, each adhering to a personalized pre-operative plan. Total tumor size, viable and non-viable portions pre- and post-operation, and SF-36 questionnaire evaluating subjective health were recorded. Results All CRAs demonstrated 100% adherence to the predetermined plan. Overall, tumor size decreased Median= -56.9% [-25.6, -72.4]) with a reduction in viable tissue, (Median= -80.4% [-53.3, -95.2]). Four patients required additional CRAs. Only one patient’s tumor did not reduce in size. One patient suffered from local muscle necrosis. Pre-operation, the average physical and mental scores 41.6 [29.4, 43] and 26.3 [17.6, 40.9] respectively. Post-operation, the average physical and mental scores were 53.4[38, 59.7] and 38 [31.2, 52.7] respectively. Conclusion These findings provide an early indication of the feasibility and efficacy of performing percutaneous cryosurgery using skin fiducial marker registration for MRI-computed navigation to treat EDTs safely. Larger cohorts and multicenter evaluations are needed to determine the efficacy of this technique.

AbstractDesmoid tumors (DT) are rare benign tumors with a local invasion potential and recurrence. It is characterized on histology by an abnormal fibroblastic proliferation in a collagenous stroma, in variable proportions leading to heterogeneity of the lesion signal on magnetic resonance imaging (MRI). Current guidelines propose watchful waiting but in case of progression or symptoms, cryotherapy may be a therapeutic option in its extra-abdominal form. Tumor recurrence is mostly detected based on post-contrast magnetic resonance imaging (MRI). Although DWI sequence is the key-sequence for tumor detection in oncologic imaging, there are very few data in literature on diffusion weighted imaging (DWI) in DT generally and even fewer on DT after cryotherapy. DWI changes after cryotherapy may be confusing and suspicious of residual tumor or tumor recurrence when displaying low ADC values; thus knowledge of possible DWI patterns after cryotherapy of DT seem paramount. We found that the early changes of DT after cryotherapy are hyperintensity on DWI sequence with low ADC values (

Objectives: The development of desmoid tumors (DT) is associated with trauma, which is an aspect with medicolegal relevance. The objective of this study was to analyze the proportion and type of trauma (surgical, blunt/fracture, implants), its lag time, and mutations of the CTNNB1 gene in patients with sporadic DT. Methods: We analyzed a prospectively kept database of 381 females and 171 males, median age at disease onset 37.7 years (females) and 39.3 years (males) with a histologically confirmed DT. Patients with germline mutation of the APC gene were excluded. Details of the history particularly of traumatic injuries to the site of DT were provided by 501 patients. Results: In 164 patients (32.7%), a trauma anteceding DT could be verified with a median lag time of 22.9 months (SD, 7.7 months; range, 9‐44 months). A prior surgical procedure was relevant in 98 patients, a blunt trauma in 35 patients, a punctuated trauma (injections, trocar) in 18 patients, and site of an implant in 10 patients. In 220 patients, no trauma was reported (43.9%), and 58 females (11.6%) had a postpregnancy DT in the rectus abdominis muscle. In 42 patients (8.4%), data were inconclusive. The distribution of mutations in the CTNNB1 gene (codon 41 vs. 45) was similar in patients with and without a history of trauma before DT development. Conclusions: A significant subgroup of patients suffers from a trauma‐associated DT, predominantly at a prior surgical site including implants to breast or groin, accounting for 77.9% of the cases, whereas blunt trauma was responsible in 22.1%. We found no data to support that trauma‐associated DT have different molecular features in the CTNNB1 gene. A significant proportion of patients develop a desmoid tumor (DT) after surgical or blunt trauma with an interval to the incident of almost 2 years. DT at a prior surgical site including implants in breast or groin region is the predominant location. Trauma‐associated DT does not show different molecular features in the CTNNB1 gene compared with nontraumatic DTs. [ABSTRACT FROM AUTHOR]

Introduction: Mesenteric fibromatosis (intra-abdominal desmoid tumor) is rare, with only a few cases reported in the literature. Clinical symptoms range from asymptomatic, nausea, early satiety, abdominal pain, and gastrointestinal bleeding. Although histologically benign, such a tumor may become locally invasive, and aggressive forms contribute to significant morbidity and mortality. Case Presentation: We report the case of a 52-year-old West African male with a 1-year history of intermittent hematochezia and intermittent bloating. Colonoscopy revealed a 4-mm rectal polyp and internal hemorrhoids. Esophagogastroduodenoscopy revealed a severe duodenal stricture 4–5 cm distal to the ampulla. Further work-up with contrast-enhanced computed tomography of the abdomen and pelvis revealed a 5.0 × 3.7 × 4.3-cm mass within the mesentery, encasing the distal portion of the duodenum. Exploratory laparotomy was performed, and the mass was excised from the jejunum. Histopathology findings and immunohistochemical analysis revealed the diagnosis to be mesenteric fibromatosis (desmoid tumor), positive for nuclear β-catenin and SMA, and negative expression of STAT6, desmin, caldesmon, pan-cytokeratin, or c-KIT. The Ki67 index is <1%. Conclusion: This case report highlights the diagnostic challenges of mesenteric fibromatosis due to its nonspecific clinical presentation. Recognizing uncommon presentations of mesenteric fibromatosis and risk factors aids in early diagnosis, management, and treatment. Importantly, this also aids in the prevention of complications such as intestinal obstruction, bowel ischemia, and fistula formation. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis (DF) is a connective tissue tumor that grows aggressively in musculoaponeurotic tissues. It has an annual incidence rate of 2–4/million and is commonly seen in individuals aged 15 to 60 years, with female predominance. While it can occur in any body part, it is commonly found in the extremities, abdominal wall, and abdominal mesentery. But it rarely develops in the chest wall. The cause of the tumor is unknown. However, trauma to the tumor site has been identified in 25% of known cases. The primary treatment is surgical resection. Local recurrence after surgical excision is common. Our study highlights the case of a 12-year-old male patient diagnosed with a desmoid tumor on the chest wall 2 years ago, at the age of 10 years, after mild trauma. The tumor was successfully managed with surgery without radiotherapy treatment and no recurrence was observed in the last 2 years. [ABSTRACT FROM AUTHOR]

A desmoid tumor (DT) is a rare benign neoplasm arising from muscle aponeurosis, associated mostly with trauma or pregnancy. DT has an infiltrative and locally aggressive growth pattern and usually does not metastasize. However, it has a high recurrence and complication rate. When it occurs in pregnancy, the pregnancy and delivery is taken as an individual case for optimal management by physicians and midwifes, who need to be cautious in finding the optimal delivery mode for the patient, which depends on the tumor size, location, behavior, and past history. The authors report a case of 29-year-old pregnant woman who previously underwent systemic oncological treatment for a large abdominal wall desmoid tumor and became pregnant afterwards. The history of DT presented a follow-up and delivery challenge. Observational management was chosen with an elective cesarean section at week 38 + 4 of pregnancy with uncomplicated postpartum follow-up. The authors detail the clinical management and chosen therapeutic approach; chemotherapy can be a choice in the treatment options for patients with DTs, although the majority of DTs are treated surgically with subsequent mesh plastic. Moreover, the authors provide a systematic review of the literature focused on the treatment management of DTs in pregnant women during pregnancy and the postpartum period, as pregnancy-associated desmoid tumors are a specific condition, where the optimal management is not well established, despite some guidelines for non-pregnant patients. [ABSTRACT FROM AUTHOR]

Background: Precision surgery is becoming increasingly important in the field of Orthopaedic Oncology. Image-guided percutaneous cryosurgery (CRA) has emerged as a valid treatment modality for extra-abdominal desmoid tumors (EDTs). To date, most CRA procedures use CT-based guidance which fails to properly characterize tumor segments. Computer-guided MRI navigation can address this issue however, the lack of a fixed landmark for registration remains a challenge. Successful CRA correlates directly with precision approaches facilitated by intraoperative imaging guidance. This is the first study that attempts to assess the feasibility and efficacy of a novel approach of using skin fiducial markers to overcome the challenge of a MRI-based navigation CRA for symptomatic or progressive EDTs. Methods: In this retrospective study conducted between 2018 and 2020, 11 patients at a single center with symptomatic or progressive EDTs were treated with CRA using intraoperative MRI navigation. Fifteen cryosurgery procedures were performed, each adhering to a personalized pre-operative plan. Total tumor size, viable and non-viable portions pre- and post-operation, and SF-36 questionnaire evaluating subjective health were recorded. Results: All CRAs demonstrated 100% adherence to the predetermined plan. Overall, tumor size decreased Median= -56.9% [-25.6, -72.4]) with a reduction in viable tissue, (Median= -80.4% [-53.3, -95.2]). Four patients required additional CRAs. Only one patient's tumor did not reduce in size. One patient suffered from local muscle necrosis. Pre-operation, the average physical and mental scores 41.6 [29.4, 43] and 26.3 [17.6, 40.9] respectively. Post-operation, the average physical and mental scores were 53.4[38, 59.7] and 38 [31.2, 52.7] respectively. Conclusion: These findings provide an early indication of the feasibility and efficacy of performing percutaneous cryosurgery using skin fiducial marker registration for MRI-computed navigation to treat EDTs safely. Larger cohorts and multicenter evaluations are needed to determine the efficacy of this technique. [ABSTRACT FROM AUTHOR]

In patients with desmoid tumors (DTs), active surveillance has been increasingly preferred over surgery, while treatment (including pharmacological therapy, radiotherapy, and/or surgery) is performed in cases with confirmed disease progression. This study aimed to evaluate event-free survival and pain management according to different treatment strategies. We evaluated event-free survival, including recurrence after initial surgical treatment or changes in the therapeutic management after initial non-surgical treatment and pain management according to different treatment strategies. All patients referred for DT in 2001–2021 at our institutions were stratified into four groups: those treated surgically prior to 2012 (SGPre12) or after 2012 (SGPost12), those treated pharmacologically (MG), and those under active surveillance (ASG). An event was defined as recurrence after initial surgical treatment or a change in therapeutic management. Overall, 123 patients were included in the study: 28 in SGPre12, 41 in SGPost12, 38 in MG, and 16 in ASG. Pharmacological treatment resolved painful symptoms in 16/27 (60%) patients (p = 0.0001). The median follow-up duration was 40 months (IQR 23–74). Event-free survival at 1, 3, and 5 years was: 85%, 70%, and 62% in SGPre12; 76%, 58%, and 49% in SGPost12; 49%, 31%, and 31% in MG; and 45%, 45%, and 45% in ASG. Our findings support the role of active surveillance as initial management, as demonstrated by the fact that about half the patients did not experience any progression, while surgery can be reserved as a first-line approach for selected patients. In terms of pain relief, medical therapy led to symptom resolution in more than half the cases. [ABSTRACT FROM AUTHOR]

Desmoid fibromatosis is a myofibroblastic neoplasm of intermediate biologic potential, which has a strong predilection for local recurrence but does not metastasize. Arranged in long, sweeping fascicles with infiltrative borders, desmoid fibromatosis typically consists of uniform, bland myofibroblastic spindle cells that harbor mutation of CTNNB1 (or less often APC). In this report, we present a remarkable case of desmoid fibromatosis associated with striking nuclear pleomorphism. We hypothesize that this striking pleomorphism is due to a germline TP53 mutation, a finding first suspected due to strong and diffuse p53 staining by immunohistochemistry and subsequently confirmed by molecular testing. The combination of the pleomorphism and TP53 mutation in desmoid fibromatosis represents a novel finding unreported in the literature. [ABSTRACT FROM AUTHOR]

Desmoid tumors (DT) are rare benign tumors with a local invasion potential and recurrence. It is characterized on histology by an abnormal fibroblastic proliferation in a collagenous stroma, in variable proportions leading to heterogeneity of the lesion signal on magnetic resonance imaging (MRI). Current guidelines propose watchful waiting but in case of progression or symptoms, cryotherapy may be a therapeutic option in its extra-abdominal form. Tumor recurrence is mostly detected based on post-contrast magnetic resonance imaging (MRI). Although DWI sequence is the key-sequence for tumor detection in oncologic imaging, there are very few data in literature on diffusion weighted imaging (DWI) in DT generally and even fewer on DT after cryotherapy. DWI changes after cryotherapy may be confusing and suspicious of residual tumor or tumor recurrence when displaying low ADC values; thus knowledge of possible DWI patterns after cryotherapy of DT seem paramount. We found that the early changes of DT after cryotherapy are hyperintensity on DWI sequence with low ADC values (<1.00 × 10−3mm2/s), without corresponding enhancement and a later decrease in signal of the treated lesion on DWI. The freezing-thawing cycles of cryotherapy turn DT into gelatinous necrosis with a slow resorption rate, as reported in the only few studies referring of changes of DWI signals after cryotherapy, which are on renal and prostate models. Hyperintensity on DWI with low ADC values may be seen in early MRI follow-up after cryotherapy of extra-abdominal DT, corresponding with tumor necrosis changes and should not be mistaken with recurrence. Magnetic resonance imaging is the modality of choice for desmoid tumor (DT) follow-up, mainly based on contrast uptake which make data on diffusion weighted imaging (DWI) very rare. Cryotherapy is an accepted therapeutic option for DT that will lead to tumor necrosis. Hyperintensity on DWI with low apparent diffusion coefficient values is a possible expected early pattern on DWI after cryotherapy of DT. [ABSTRACT FROM AUTHOR]

Familial adenomatous polyposis (FAP) patients develop various life‐threatening extracolonic comorbidities that appear individually or within a family. This diversity can be explained by the localization of the adenomatous polyposis coli (APC) variant, but few reports provide definitive findings about genotype–phenotype correlations. Therefore, we investigated FAP patients and the association between the severe phenotypes and APC variants. Of 247 FAP patients, 126 patients from 85 families identified to have APC germline variant sites were extracted. These sites were divided into six groups (Regions A to F), and the frequency of severe comorbidities was compared among the patient phenotypes. Of the 126 patients, the proportions of patients with desmoid tumor stage ≥III, number of FGPs ≥1000, multiple gastric neoplasms, gastric neoplasm with high‐grade dysplasia, and Spigelman stage ≥III were 3%, 16%, 21%, 12%, and 41%, respectively, while the corresponding rates were 30%, 50%, 70%, 50%, and 80% in patients with Region E (codons 1398–1580) variants. These latter rates were significantly higher than those for patients with variants in other regions. Moreover, the proportion of patients with all three indicators (desmoid tumor stage ≥III, number of FGPs ≥1000, and Spigelman stage ≥III) was 20% for those with variants in Region E and 0% for those with variants in other regions. Variants in Region E indicate aggressive phenotypes, and more intensive management is required. [ABSTRACT FROM AUTHOR]

Introduction/Justification: Recently, the tracer Prostate Specific Membrane Antigen (PSMA), which can be labeled with the radioisotopes 68Ga or 18F, has been commercially introduced. Theoretically, as the name suggests, it is a substance specific to the membrane of prostate cells and prostate cancer. However, several studies have shown that it is also a marker of neoangiogenesis, leading to its uptake in various other neoplasms and benign diseases. Objectives: This study aims to evaluate the utility of radiolabeled PSMA in detecting desmoid tumors, comparing it to 18F-luorodeoxyglucose (FDG). Materials and Methods: Three participants with a confirmed diagnosis of desmoid tumor underwent PET/CT examinations with 18F-PSMA and 18F-FDG, with a maximum interval of 3 days between examinations. Images were visually compared lesion by lesion and the maximum standardized uptake value (SUV) was calculated for each lesion and each radiopharmaceutical. Results: All lesions presented uptake of both 68Ga-PSMA and 18F-FDG. In the first patient, 3 lesions were identified: a mass adjacent to the pancreas measuring 5.4 cm (FDG: SUV = 2.0) (PSMA: SUV = 8.2), a mass in the right iliac fossa measuring 7.7 cm (FDG: SUV = 3.8) (PSMA: SUV = 5.7), and another involving the duodenojejunal transition measuring 4.1 cm (FDG: SUV = 1.9) (PSMA: SUV = 3.7). In the second patient, a mass was identified adjacent to the head and uncinate process of the pancreas measuring 9.2 cm (FDG: SUV = 9.8) (PSMA: SUV = 6.1). In the third patient, an irregular retroperitoneal mass was identified at the level of the aortic bifurcation (FDG: SUV = 2.3) (PSMA: SUV = 2.4). Conclusion: Desmoid tumors can demonstrate uptake of both 68Ga-PSMA and 18F-FDG. The intensity of tracer uptake in the lesions is variable, with some showing greater uptake of FDG, others of PSMA, suggesting a potential complementary role for these radiotracers in desmoid tumors.

Desmoid tumor is a rare mesenchymal neoplasm of unknown etiology. Despite rare, the diagnosis of desmoid tumors after bariatric surgery is increased over the last few years. We report a case of a 26-year-old male with complains of abdominal pain and postprandial fullness, diagnosed with a locally advanced large intra-abdominal mass (40 × 21 × 11.7 cm) centered in the mesentery, developed 3 years after sleeve gastrectomy. Percutaneous biopsy was suggestive of a mesenquimatous tumor and the patient underwent surgery. R0 surgical resection was achieved, despite intimal contact and common vascularization with a jejunal loop. Histopathology examination of the surgical specimen revealed fusiform to stellate cells with mild atypia, thin-walled vessels, and diffuse beta-catenin expression (negative for DOG-1, CD117, CD34, S100, desmin, and alpha-actin). The diagnosis of a desmoid tumor was made. The patient remained asymptomatic, and no recurrence occurred over a 4-year follow-up. With the increasing number of bariatric surgeries, owing to the alarming growing incidence of obesity and related conditions, it is expected that desmoid tumors reports will gradually increase over the next few years. Thus, both gastroenterologists and surgeons should be aware of the potential for desmoid tumor development shortly after surgery, to offer a prompt diagnosis and treatment.

To investigate the safety and efficacy of iodine-125 seed implantation in the treatment of abdomen-thorax desmoid tumors (DTs). Data from 14 DT patients who received brachytherapy with iodine-125 seeds were retrospectively collected from 2014 to 2020. The operation was completed using CT guidance and the treatment plan system (TPS). The number of lesions and the target dosimetry parameters were recorded. After brachytherapy, the lesions were evaluated using response evaluation criteria in solid tumors (RECIST). Fourteen patients with 18 lesions were enrolled in this study; eleven lesions were in the thorax, seven were in the abdomen, and the lesion gross tumor volume (GTV) was 82.10 cc (interquartile range [IQR]: 40.37, 203.42 cc). The median number of seeds was 88 (IQR: 35, 158), and the median prescription dose was 120 Gy (IQR: 115, 120 Gy). The D 90 was 123 ± 16.7 Gy, the V 90 was 97% (IQR: 95.00, 97.25%), and the V 200 was 27% (IQR: 14.50, 33.00%). The median follow-up time for each lesion was 34 (IQR: 23, 67) months, and the local response rate was 100%. Following brachytherapy, the overall survival was 52.3 ± 30.72 months. One year after brachytherapy, one patient experienced persistent worsening of a brachial plexus injury; another received a ureteral stent. No brachytherapy-related complications were observed in the remaining patients. Iodine-125 brachytherapy is a novel treatment option for DT of the abdomen and thorax. Although it is a safe and effective treatment, the radiation dose of iodine-125 brachytherapy for DT-embedded organs at risk must be investigated further. [ABSTRACT FROM AUTHOR]

Purpose: The GODDESS© tool was developed to assess Desmoid Tumor/Aggressive Fibromatosis (DT/AF) symptom severity and impact on patients' lives. This study evaluated GODDESS©'s cross-sectional and longitudinal measurement properties. Methods: The Phase 3, randomized placebo-controlled, DeFi study (NCT03785964) of nirogacestat in DT/AF was used to assess GODDESS©'s reliability, construct validity, responsiveness, and estimate of meaningful change thresholds (MCTs). Other patient-reported outcome (PRO) measures included Patient Global Impression of Severity (PGIS) in DT/AF symptoms, EORTC QLQ-C30, Brief Pain Inventory Short Form, and PROMIS Physical Function short-form 10a v2.0 plus 3 items. Results: DeFi participants (N = 142) had a median age of 34 years (range: 18–76) and were mostly female (64.8%), with extra-abdominal (76.8%) or intra-abdominal tumors (23.2%). The GODDESS© symptom/impact scales showed internal consistency at baseline, cycles 4 and 7 (Cronbach's α > 0.70) and test–retest reliability (intra-class correlation coefficient > 0.85). GODDESS© scales correlated moderately to highly with PRO measures capturing similar content and differentiated among PGIS and Eastern Cooperative Oncology Group groups. GODDESS© scales detected improvement over time. For the total symptom score, a 1.30-point decrease was estimated as the within-person MCT and a 1.00-point decrease as the between-group MCT. For the physical functioning impact score, estimated within- and between-group MCTs were 0.60-point and 0.50-point decreases, respectively. Few participants exhibited symptom worsening. Conclusion: GODDESS© was found to be reliable, valid, responsive, and interpretable as a clinical trial endpoint in the pooled sample of DT/AF patients. Estimated MCTs can be used to define responders and assess group-level differences in future, unblinded, efficacy analyses. Trial registration number and registration date: NCT03785964; December 24, 2018. [ABSTRACT FROM AUTHOR]

Mammary fibromatosis is a rare neoplastic proliferation of fibroblastic cells. Usually seen in abdominal and extra-abdominal sites, it is rarely seen in the breast. Patients with mammary fibromatosis usually present with a firm palpable mass with or without dimpling and skin retraction–often mimicking breast carcinoma. Here, we present a case of mammary fibromatosis in a 49-year-old woman who presented with a palpable lump in her right breast. Mammography tomosynthesis revealed architectural distortion which was seen on ultrasonography as a hypoechoic area. The patient underwent a wire-guided excision where the histology of this specimen showed irregular spindle cell proliferation with hemosiderin deposition, confirming mammary fibromatosis. Further re-excision of margins revealed no evidence of residual fibromatosis, and the patient underwent subsequent surveillance mammograms to ensure there was no recurrence.

For nearly half a century, desmoid tumor (DT) has been considered a major complication that occurs in approximately 10%-25% of familial adenomatous polyposis (FAP) patients. It is also the leading cause of death in patients undergoing colectomy. We believe that the mortality rate is improving due to the understanding of the natural history of DT and recent advances in medical treatment. The risk factors of DT development include trauma, having a distal germline APC variant, having a family history of DTs, and estrogens. In the era of minimally invasive surgery, several reports demonstrated no significant difference in both surgical approach (laparoscopic vs. open) and surgical procedure (ileal pouch-anal anastomosis vs. ileorectal anastomosis). Regarding the treatment of FAP-associated DT, rapidly proliferating and life-threatening intra-abdominal DT accounts for approximately 10% of FAP-associated DT; however, it has been shown that it can be controlled by identifying and introducing cytotoxic chemotherapy. Moreover, tyrosine kinase inhibitors and γ-secretases, which are used to treat sporadic DT, which is more frequent than FAP-associated DT, are expected to be effective. In the future, such treatment is expected to further reduce the mortality rate from DT associated with FAP. In addition to the conventional staging of intra-abdominal DT, the classification proposed in Japan was recently thought to be useful for the treatment strategy of FAP-associated DTs. In this review, we summarize the recent advances and current management for the FAP-associated DT, including recent data from Japan.

Abstract Background Papillary thyroid carcinoma (PTC) is a common neoplasia with multiple variants. One of these extremely rare and poorly described variants is PTC with fibromatosis-like stroma (PTC-FMS), a peculiar entity distinguished by its predominant mesenchymal component. This paper reviews the literature, discusses the diagnostic challenges, and the clinical and surgical implications of this type of tumor which has fewer than 30 cases reported in the literature. Case presentation We reported a case of PTC-FMS found in a 41-year-old Italian woman, who came to our Institute with a recent growth in the form of a mass on the neck. Further immunohistochemical examination showed β-catenin aberrant staining both in the nuclei and cytoplasm of the mesenchymal cells. The patient underwent total thyroidectomy and received radioactive iodine (RAI) 2 months after surgery. Conclusion Given the possibility of recurrence of PTC-FMS and the ineffectiveness of RAI therapy, complete surgical resection represents the main treatment for this type of tumor. Despite the fact that the specific nature of these lesions has yet to be determined, guidelines for classical PTC should be followed.

Case presentation: A middle-aged woman presented to the emergency department with a chiefcomplaint of abdominal pain, fever, vomiting, and diarrhea. Abdominal computed tomographyrevealed gastric pneumatosis and air in the portal system. The patient had an unfavorable clinicalcourse with pneumoperitoneum and septic shock due to secondary peritonitis. She underwentemergency laparotomy where neoformation of the mesentery root was found with infiltration of thesmall intestine and jejunal perforation. The anatomopathological study of the tumor revealed that itwas a desmoid tumor.Discussion: To our knowledge this is the first report in the literature of gastric pneumatosis as theinitial presentation of a mesenteric desmoid tumor. Although it usually has a benign clinical course,its locally invasive characteristics can lead to critical illness. Physicians shouldn’t overlook thesetypes of complications, as early identification and surgical intervention can modify the prognosis andshorten hospital stay.

Desmoid tumors (DTs) are non-metastasizing and locally aggressive soft-tissue mesenchymal neoplasms. Those that become enlarged often become locally invasive and cause significant morbidity. DTs have a varied pattern of clinical presentation, with up to 50–60% not growing after diagnosis and 20–30% shrinking or even disappearing after initial progression. Enlarging tumors are considered unstable and progressive. The management of symptomatic and enlarging DTs is challenging, and primarily consists of chemotherapy. Despite wide surgical resection, DTs carry a rate of local recurrence as high as 50%. There is a consensus that contrast-enhanced magnetic resonance imaging (MRI) or, alternatively, computerized tomography (CT) is the preferred modality for monitoring DTs. Each uses Response Evaluation Criteria in Solid Tumors version 1.1 (RECIST 1.1), which measures the largest diameter on axial, sagittal, or coronal series. This approach, however, reportedly lacks accuracy in detecting response to therapy and fails to detect tumor progression, thus calling for more sophisticated methods. The objective of this study was to detect unique features identified by deep learning that correlate with the future clinical course of the disease. Between 2006 and 2019, 51 patients (mean age 41.22 ± 15.5 years) who had a tissue diagnosis of DT were included in this retrospective single-center study. Each had undergone at least three MRI examinations (including a pretreatment baseline study), and each was followed by orthopedic oncology specialists for a median of 38.83 months (IQR 44.38). Tumor segmentations were performed on a T2 fat-suppressed treatment-naive MRI sequence, after which the segmented lesion was extracted to a three-dimensional file together with its DICOM file and run through deep learning software. The results of the algorithm were then compared to clinical data collected from the patients’ medical files. There were 28 males (13 stable) and 23 females (15 stable) whose ages ranged from 19.07 to 83.33 years. The model was able to independently predict clinical progression as measured from the baseline MRI with an overall accuracy of 93% (93 ± 0.04) and ROC of 0.89 ± 0.08. Artificial intelligence may contribute to risk stratification and clinical decision-making in patients with DT by predicting which patients are likely to progress.

Desmoid tumor (DT) is a rare neoplasm characterized by the proliferation of myofibroblastic cells that infiltrates and invades adjacent tissues. Due to its locally aggressive and recurrent nature, DT often causes local symptoms and can be challenging to manage clinically. Therefore, identifying biomarkers that can predict the progression of DT and guide treatment decisions is critical. This review summarizes several biomarkers that have been implicated in active surveillance (AS) and the prediction of postoperative recurrence and attempts to elucidate their underlying mechanisms. Some of these novel markers could provide prognostic value for clinicians, and ultimately help facilitate optimal and accurate therapeutic decisions for DT. [ABSTRACT FROM AUTHOR]

Deep fibromatosis is a locally aggressive neoplasm commonly involving the extremities. Several authors have described imaging features and complications associated with deep fibromatosis. We present the case of a 33-year-old man who presented with a right gluteal fibrous mass identified on magnetic resonance imaging (MRI), which was associated with a pseudoaneurysm originating from the right superior gluteal artery on serial follow-up with MRI and computed tomography. No intervention was done, and after conservative management, spontaneous thrombosis of the pseudoaneurysm was developed. Such imaging finding is the first report of a spontaneous development of pseudoaneurysm caused by deep fibromatosis, which could be a life-threatening condition and should be considered when dealing with deep fibromatosis and deciding on the appropriate treatment. [ABSTRACT FROM AUTHOR]

Anterior abdominal wall fibromatosis is a benign soft tissue tumor that is rare, but fast-growing with minimal chances of malignant change. We report a young female with a large abdominal swelling which on evaluation was provisionally diagnosed as anterior abdominal wall fibromatosis on imaging and confirmed by histopathology. She was successfully managed with resection of the tumor with a challenging abdominal wall reconstruction with bilateral inferiorly based external oblique muscle flap followed by a mesh repair. Though rare, these tumors are difficult to miss. The importance of this case report is that it describes the methods of multimodal management of a patient with surgery, reconstruction, and adjuvant therapy leading to better patient outcomes. [ABSTRACT FROM AUTHOR]

Sporadic intra-abdominal desmoid tumors are rare and known to potentially occur after trauma including previous surgery, although knowledge of the underlying pathogenetic mechanism is still limited. We reviewed the recent literature on sporadic intraabdominal desmoids and inflammation as we investigated the mutational and epigenetic makeup of a case of multiple synchronous mesenterial desmoids occurring after necrotizing pancreatitis. A 62-year-old man had four mesenteric masses up to 4.8 cm diameter detected on CT eighteen months after laparotomy for peripancreatic collections from necrotizing pancreatitis. All tumors were excised and diagnosed as mesenteric desmoids. DNA from peripheral blood was tested for a multigene panel. The tumour DNA was screened for three most frequent β-catenin gene mutations T41A, S45F and S45P. Expression levels of miR-21-3p and miR-197-3-p were compared between the desmoid tumors and other wild-type sporadic desmoids. The T41A CTNNB1 mutation was present in all four desmoid tumors. miR-21-3p and miR-197-3p were respectively upregulated and down-regulated in the mutated sporadic mesenteric desmoids, with respect to wild-type lesions. The patient is free from recurrence 34 months post-surgery. The literature review did not show similar studies. To our knowledge, this is the first study to interrogate genetic and epigenetic signature of multiple intraabdominal desmoids to investigate potential association with abdominal inflammation following surgery for necrotizing pancreatitis. We found mutational and epigenetic features that hint at potential activation of inflammation pathways within the desmoid tumor. [ABSTRACT FROM AUTHOR]

Desmoid tumors are a rare form of cancer, which show locally aggressive invasion of surrounding tissues and may occur anywhere in the body. Treatment options comprise conservative watch and wait strategies as tumors may show spontaneous regression as well as surgical resection, radiation therapy, nonsteroidal anti-inflammatory drugs (NSAID), chemotherapy, or local thermoablative approaches for progressive disease. The latter comprises cryotherapy, radiofrequency, microwave ablation, or thermal ablation with high intensity focused ultrasound (HIFU) as the only entirely non-invasive option. This report presents a case where a desmoid tumor at the left dorsal humerus was 2 times surgically resected and, after recurrence, thermally ablated with HIFU under magnetic resonance image-guidance (MR-HIFU). In our report, we analyze tumor volume and/or pain score during standard of care (2 years) and after HIFU treatment over a 4-year follow-up period. Results showed MR-HIFU treatment led to complete tumor remission and pain response. [ABSTRACT FROM AUTHOR]