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A patient in their 30s presented with chronic right upper quadrant abdominal pain, nausea, bloating, and constipation. Her clinical exam was unremarkable, and computed tomography (CT) of the chest and abdomen which showed a large right-sided thoracic mass with extension into the thoracic spinal canal. A needle biopsy revealed a diagnosis of ganglioneuroma, the patient then underwent a combined approach for excision the tumor. Ganglioneuroma is a neuroblastic tumor of a neural crest origin, it originates from paravertebral sympathetic chain ganglia of the posterior mediastinum or retroperitoneum. They usually extend through neuroforamina to involve the epidural space and surgical excision can be curative.

Cervical ganglioneuroma combined with neurofibromatosis type I is very rare. This article reports a case of a 21-year-old male patient with a rare presentation of cervical ganglioneuroma and neurofibromatosis type I. In this patient, the tumors on both sides of the cervical spine were surgically removed with good results. The effects and advantages of surgery when both diseases coexist are discussed, as well as further investigation into possible causal relationships between these two pathologies., Competing Interests: The authors report no conflicts of interest., (Copyright © 2024 by Mutaz B. Habal, MD.)

Neurofibromatosis type I is a relatively rare inherited disorder. Simultaneous occurrence of abdominal tumors of three types in NF-I and causing intussusception is rare. We report a synchronous case of small bowel gastrointestinal stromal tumor, small bowel adenocarcinoma, and ganglioneuroma complicated by intussusception in an old woman with NF-I. The patient presented with a 2-month history of abdominal pain and multiple neurofibromas and café au lait macules was found all over the patient's body. The enhanced computed tomography revealed a terminal ileal tumor which was significantly enhanced with secondary intussusception. The tumor of the ileum was considered to be NF-I-associated intestinal neurofibroma.Postoperative pathology and immunohistochemistry showed that the terminal ileocecal mass was adenocarcinoma and ganglioneuroma and intraoperative exploration also revealed a gastrointestinal stromal tumor. In this patient, the preoperative imaging was not compatible with the pathological findings.Either neurofibromatosis involving the intestine or neurofibromatosis with small bowel tumors should be managed aggressively to improve the patient's survival and quality of life.

Intestinal ganglioneuromatosis (GN) is a benign disease of the autonomic nervous system characterized by hyperplasia of intramural plexuses of the gastrointestinal tract and enteric nerve fibers. Next, we expose an intestinal ganglioneuromatosis case that was difficult to diagnose despite an exhaustive evaluation, for further understanding of the disease.

A ganglioneuroma is a rare, benign, neurogenic tumor originating from the sympathetic ganglion. Mediastinal ganglioneuroma are mostly detected in children, typically around 10 years of age, and are rarely identified in adults. Herein, we report two surgically resected cases of mediastinal ganglioneuroma in adults. In Case 1, a 53-year-old man, without any symptom, underwent a computed tomography, revealing a 3.2 cm well-defined paravertebral superior mediastinal tumor with long craniocaudal axis. In case 2, a 29-year-old woman presented with newly-developed ptosis and a history of left-sided facial hypohidrosis since the age of 10. Chest computed tomography (CT) revealed a 7.8 cm well-defined paravertebral superior mediastinal tumor with long craniocaudal axis. Both patients were initially suspected to have neurogenic tumors, particularly schwannomas. They underwent mediastinal tumor resections, requiring sympathetic nerve trunk dissection. Pathological examination confirmed the diagnosis of ganglioneuromas in both cases. Mediastinal ganglioneuroma must be differentiated from schwannoma, the most common neurogenic tumor in adults. Unlike schwannoma, ganglioneuroma cannot be enucleated, therefore attention should be focused on complications associated with sympathetic nerve trunk dissection, such as Horner's syndrome, hyperhidrosis, and arrhythmia. Identifying this rare entity and its characteristic imaging aids in preoperative differentiation, strategizing surgical approaches, and predicting complications.

Ganglioneuroma is a benign tumor requiring subtotal resection as a primary mode of treatment. There are several surgical approaches. A giant ganglioneuroma of the chest cavity may be approached via a clamshell thoracotomy. This manuscript presents a case of giant ganglioneuroma resected en bloc via clamshell thoracotomy in a seven-year-old child., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

A 53-year-old man complaining of pain in the right hypochondrium underwent an abdominal ultrasound that showed a left adrenal lesion. Further instrumental investigations (CT and MRI, both with contrast medium) were performed which diagnosed an adrenal ganglioneuroma, confirmed by the histological examination. The patient also underwent an endocrinological examination. The treatment was surgical and consisted of an adrenalectomy through video-laparoscopic access. Adrenal ganglioneuromas are rare tumors but well described and known in the literature. For this reason, this case report has primarily an educational purpose: the totality of the data collected (clinical, laboratoristic, instrumental, and histopathological) constituted a multidisciplinary case, with the focus on imaging.

Aim: To develop a multivariable prediction model for preoperative differentiation of ganglioneuroma (GN) from schwannoma in mediastinum and retroperitoneum based on clinical data and enhanced computed tomography (CT)., Materials and Methods: This was a retrospective diagnostic study. Patients diagnosed with mediastinum or retroperitoneal GN or schwannoma at Zhongshan Hospital between July 2006 and March 2022 were divided into a training cohort and a validation cohort at a ratio of 7:3. Clinical information and CT features were collected. Histopathology was the reference standard for diagnosis. The model was developed using binary logistic regression. The predictive performance of the model was assessed using receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA)., Results: A total of 105 patients (47 men and 58 women; mean age of 41 ± 15 years) were enrolled. There were significant differences in symptoms (p=0.006), location (p=0.008), ratio of the craniocaudal diameter (CC) to the major axis on axial images (CC/M; p=0.025), ratio of the CC to the diameter on axial images (CC/D; p<0.001), density homogeneity (p=0.001), enhancement homogeneity (p<0.001), enhancement degree (p<0.001), venous phase CT attenuation value (V; p=0.011), and blood vessels changes (p=0.045) between GN and schwannoma. The area under the ROC curve (AUC) and accuracy in the validation cohort were 0.841 (95% confidence interval [CI] 0.672, 1.000) and 0.839 (95% CI: 0.674, 0.929), respectively. Calibration curves and DCA showed that the model was beneficial for patients., Conclusion: The multivariable prediction model exhibited good predictive performance and may facilitate preoperative planning., (Copyright © 2023. Published by Elsevier Ltd.)

Background: The pretreatment International Neuroblastoma Risk Group Staging System (INRGSS) discriminates localized tumors L1/L2 depending on the absence/presence of image-defined risk factors (IDRFs) at diagnosis. Referring to this new staging system, we assessed initial imaging of localized thoracic neuroblastoma (NB) and ganglioneuroma (GN) and the extent of initial tumor resection., Methods: Patients with localized thoracic NB/GN from the German clinical trials NB97 and NB2004 were included. Imaging at diagnosis and operative reports were reviewed retrospectively. IDRFs were assessed centrally and correlated to International Neuroblastoma Staging System (INSS) stage and extent of tumor resection. Additionally, we analyzed data on surgery-related complications., Results: Imaging series of 88 patients were available for central review. In 18 children, no IDRF was present, 28 exhibited one IDRF, 42 two or more IDRFs, resulting in 70 patients with L2 disease. The most frequently observed IDRF was encasement of any vessel (n = 38). Initial surgical resection was aimed for in 45 patients (L1: n = 11; L2: n = 34). Complete and gross total resection rates were higher children with L2 NB (n = 8/25 L1, n = 17/25 L2 vs. n = 2/15 L1, n = 13/15 L2, respectively). The proportion of surgical complications was very similar between INRGSS L1 and L2 (n = 4/11 vs. n = 17/34). All complications were manageable, and no surgery-related deaths were observed., Conclusion: In this retrospective cohort, the extent of resection and the rate of surgical complications did not differ substantially between patients classified as L1/L2, indicating that INRGSS L2 does not equate unresectability. It appeared that individual IDRFs differ in value. Larger studies are needed to assess the significance and therapeutic/prognostic impact of such findings., (© 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.)

Rationale: Ganglioneuroma (GN) is a rare tumor that originates from neural crest cells and can manifest in any location along the sympathetic chain. It typically exhibits a circular or oval shape and does not invade the surrounding tissue destructively and the enormous lobular appearance and erosion of adjacent skeletal tissues are extremely infrequent among GN., Patient Concerns: A 15-year-old girl presented to our thoracic surgery clinic with a large intrathoracic mass that was incidentally discovered on a chest X-ray. Further imaging with computed tomography and magnetic resonance imaging revealed a lobular profile and an aggressive growth pattern of the tumor, which destroyed the vertebral and rib bones. A tissue sample obtained by needle biopsy was subjected to histopathological analysis, which confirmed the diagnosis of a GN., Diagnosis: Thoracic (posterior mediastinal) GN and Hashimoto's thyroiditis., Interventions: After thoracoscopic exploration, a thoracotomy was performed to excise the mass., Outcomes: The patient recovered well after surgery, had no major complications, and was discharged without any issues. Further follow-up is necessary to clarify the medium to long-term outcome., Lessons: Based on existing reports, thoracic GN rarely erodes adjacent bone tissue. By examining previously reported cases, we speculate that the lobular morphology of the tumor may be linked to the more aggressive biological behavior of GN. We also discovered that female patients may be more susceptible to bone erosion. However, further research and additional cases are required to confirm these potential associations., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Background: To identify radiomic features that can predict the pathological type of neuroblastic tumor in children., Methods: Data on neuroblastic tumors in 104 children were retrospectively analyzed. There were 14 cases of ganglioneuroma, 24 cases of ganglioneuroblastoma, and 65 cases of neuroblastoma. Stratified sampling was used to randomly allocate the cases into the training and validation sets in a ratio of 3:1. The maximum relevance-minimum redundancy algorithm was used to identify the top 10 of two clinical features and 851 radiomic features in portal venous-phase contrast-enhanced computed tomography images. Least absolute shrinkage and selection operator regression was used to classify tumors in two binary steps: first as ganglioneuroma compared to the other two types, then as ganglioneuroblastoma compared to neuroblastoma., Results: Based on 10 clinical-radiomic features, the classifier identified ganglioneuroma compared to the other two tumor types in the validation dataset with sensitivity of 100.0%, specificity of 81.8%, and an area under the receiver operating characteristic curve (AUC) of 0.875. The classifier identified ganglioneuroblastoma versus neuroblastoma with a sensitivity of 83.3%, a specificity of 87.5%, and an AUC of 0.854. The overall accuracy of the classifier across all three types of tumors was 80.8%., Conclusion: Radiomic features can help predict the pathological type of neuroblastic tumors in children., (© 2023. The Author(s).)

Purpose: To examine the potential of whole-tumor radiomics analysis of T2-weighted imaging (T2WI) in differentiating neuroblastoma (NB) from ganglioneuroblastoma/ganglioneuroma (GNB/GN) in children., Materials and Methods: This study included 102 children with peripheral neuroblastic tumors, comprising 47 NB patients and 55 GNB/GN patients, which were randomly divided into a training group (n = 72) and a test group (n = 30). Radiomics features were extracted from T2WI images, and feature dimensionality reduction was applied. Linear discriminant analysis was used to construct radiomics models, and one-standard error role combined with leave-one-out cross-validation was used to choose the optimal radiomics model with the least predictive error. Subsequently, the patient age at initial diagnosis and the selected radiomics features were incorporated to construct a combined model. The receiver operator characteristic (ROC) curve, decision curve analysis (DCA) and clinical impact curve (CIC) were applied to evaluate the diagnostic performance and clinical utility of the models., Results: Fifteen radiomics features were eventually chosen to construct the optimal radiomics model. The area under the curve (AUC) of the radiomics model in the training group and test group was 0.940 [95% confidence interval (CI) 0.886, 0.995] and 0.799 (95%CI 0.632, 0.966), respectively. The combined model, which incorporated patient age and radiomics features, achieved an AUC of 0.963 (95%CI 0.925, 1.000) in the training group and 0.871 (95%CI 0.744, 0.997) in the test group. DCA and CIC demonstrated that the radiomics model and combined model could provide benefits at various thresholds, with the combined model being superior to the radiomics model., Conclusion: Radiomics features derived from T2WI, in combination with the age of the patient at initial diagnosis, may offer a quantitative method for distinguishing NB from GNB/GN, thus aiding in the pathological differentiation of peripheral neuroblastic tumors in children., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Cervical neuroblastic tumors (NTs) are rare but less aggressive cancer with an above-average survival rate. Little has been published regarding the management and surgical outcomes of patients with cervical NTs based on pathology category. This study compared and identified the preoperative characteristics of cervical NTs in different pathology categories and evaluated the outcomes of patients undergoing surgical resection., Materials and Methods: Upon the institutional review board's approval, a retrospective chart review was performed at Beijing Children's Hospital from April 2013 to August 2020. Demographics of patients, imaging data, lab test results, operation details and outcomes were recorded and analyzed., Results: Of 32 cervical NTs, 24(80%) were classified as neuroblastoma (NB) /ganglioneuroblastoma-nodular (GNBn) and 8(20%) as ganglioneuroblastoma-intermixed (GNBi)/ ganglioneuroma (GN). Patients with GNBi/GN were older than those with NB/GNBn (44.5 months (IQR 16-81) vs 9 months (IQR 1-47); P = 0.001). GNBi/GN patients presented more frequently with stage 1 disease compared with NB/GNBn patients (100% vs. 29.2%, P = 0.001), less frequently with tumor-related symptoms (0% vs. 70.8%, P = 0.001), artery encased tumor (0% vs. 41.7%, P = 0.035), and surgical complications (25% vs. 70.8%, P = 0.038). GNBi/GN patients were also less likely to show elevated neuron specific enolase (NSE) (12.5% vs. 79.2%, P = 0.002)., Conclusions: Cervical NB/GNBn and GNBi/GN patients had distinct characteristic clinical presentations and surgical outcomes. For children with features suggestive of benign disease (older age, asymptomatic, normal serum tumor markers) and no artery image-defined risk factors (IDRFs), upfront resection can be considered., Competing Interests: Declaration of Competing Interest The authors declare that they have no conflicts of interest., (Copyright © 2022. Published by Elsevier Inc.)

Ganglioneuroma is a rare tumor originating from neural crest tissue of the sympathetic nervous system. We report on an approximately 55-year-old woman who was admitted to hospital with abdominal pain. Surgery revealed a tumor in her right ureter, which was pathologically confirmed as a ganglioneuroma. The patient underwent transabdominal total hysterectomy, bilateral adnexal resection, release of pelvic and intestinal adhesions, right ureteroscopy, right ureter retrograde intubation, right ureteral lesion excision, and ureteral anastomosis. A literature review indicated that most ganglioneuromas are benign tumors. Clinicians may consider total or subtotal tumor resection, depending on the tumor location and patient's condition. The patient's clinical condition may improve after surgery combined with periodic long-term follow-up.

Competing Interests: None

Purpose: To comprehensively present the clinical characteristics and treatment strategies in patients with scoliosis secondary to ganglioneuroma (S-GN)., Methods: Six patients with S-GN treated surgically at a median age of 12 years were retrospectively reviewed and the median follow-up period was 6 years (4-14 years). The radiological features of GN and the associated scoliosis were evaluated. The surgical strategies and the corresponding outcomes were investigated., Results: All patients had a delayed diagnosis age of GN than scoliosis (12 vs. 9 years). GN was located at the posterior mediastinum in four patients (66.7%) and at retroperitoneum in two, respectively. Tumor occupancies were frequently detected on the X-ray films for four patients (66.7%), being uniformly on the convexity of the main curve. All patients complained of rapid progressive deformities during the growth period. Five patients (83.3%) received total tumor resections, one accepted partial resection. Deformity correction was implemented for all patients with an average rate of 66.4% on the main curve. No recurrence of the GN was detected for all totally tumor-resected patients at the latest follow-up., Conclusion: S-GN is often misdiagnosed clinically. Paravertebral mass neighboring the apex of scoliosis can be meticulously detected from the X-ray films. Total tumor resection should be aggressively performed if possible. The deformity correction could be satisfactorily obtained and the risk of recurrence of the GN was relatively low., (© 2022. The Author(s), under exclusive licence to Scoliosis Research Society.)

An otherwise healthy 57-year-old man presented with intermittent low back pain and was incidentally found to have a left-sided paraspinal mass invading the spinal canal and causing spinal cord compression. He underwent a T11-12 hemilaminectomy, facetectomy, and instrumented fusion for a gross total resection with a good clinical outcome. Pathology revealed the lesion to be a ganglioneuroma. Ganglioneuroma is a rare and interesting pathology. These tumors are benign peripheral neuroblastic tumors derived from the neural crest and found along the entire neuroaxis. Tumors come to clinical attention if they cause symptomatic compression of neural structures or are found incidentally on imaging. Additionally, as these tumors share a common lineage with pheochromocytomas, systemic symptoms can be observed resulting from secretion of vasoactive peptides. The pathologic diagnosis of ganglioneuroma is predominantly based on morphology., (Copyright © 2022 Elsevier Inc. All rights reserved.)

BACKGROUND Ganglioneuromas are differentiated tumors originating from the neural crest. Although their occurrence is rare, they usually involve the posterior mediastinum and retroperitoneum. However, they rarely occur in the adrenal gland. Adrenal ganglioneuromas (AGNs) are hormonally inactive tumors that are mostly discovered incidentally during abdominal imaging performed for unrelated reasons. As preoperative diagnosis is challenging owing to their heterogeneous nature, adrenalectomy is the most effective method to ascertain an AGN diagnosis. We report a case of left adrenal ganglioneuroma treated by laparoscopic adrenalectomy. In addition, we have presented a relevant literature review to provide further information about this rare tumor. CASE REPORT A 41-year-old woman presented to the Emergency Department with left flank pain associated with dysuria. She was diagnosed with renal colic, which was confirmed by computed tomography of the kidneys, ureter, and bladder. Additionally, an incidental solid lesion in the left adrenal gland was discovered. She was treated conservatively for her acute condition at the Emergency Department and discharged in a good condition. Further work-up including magnetic resonance imaging revealed a left large triangular suprarenal mixed soft tissue mass. She underwent laparoscopic left adrenalectomy. The final histopathology showed an AGN. CONCLUSIONS We present a case of a large AGN in a patient with systemic lupus erythematosus. Because it is a rare tumor with a heterogeneous presentation, its preoperative diagnosis is challenging. Thus, adrenalectomy is required to confirm the diagnosis. The prognosis is excellent and recurrence is extremely rare after tumor resection.

Ganglioneuromas are slow growing tumours arising from tissues of the neural crest, mainly in autonomic nervous system. They are frequently localized in the posterior mediastinum being the intraspinal involvement very uncommon. We present the case of a female patient with bilateral cervical ganglioneuroma, together with a review of the cases published to date, emphasizing in the main characteristics of these tumours and including them as part of neurofibromatosis type 1 spectrum., (Copyright: © 2022 Permanyer.)

Background: Ganglioneuromas are a benign tumor originating from neural crest cells. As one of the neuroblastic tumors, ganglioneuromas are most common in children, with a mean age at presentation of 7 years. Ganglioneuromas are typically singular in nature, but rarely can present with lymph node involvement and distant metastasis. We present a rare case of a retroperitoneal ganglioneuroma found in a human immunodeficiency virus positive adult, which was complicated by lymph node involvement. This case is notable not only in regard to the age of the patient, but also because of his human immunodeficiency virus positive status and the extension of tumor to lymph nodes., Case Presentation: A 27-year-old Latino male with history of human immunodeficiency virus presented with a 6-month history of left upper quadrant and epigastric abdominal pain with associated nausea and vomiting. The patient had a computed tomography scan showing a retroperitoneal mass encasing the aorta, celiac axis, and superior mesenteric artery. Core needle biopsy revealed ganglioneuroma. Owing to obstructive symptoms, resection of the mass along with partial gastric resection, partial pancreatic resection, and splenectomy was performed by a multidisciplinary group of surgeons. Pathology results revealed metastatic spread of ganglioneuroma to surrounding lymph nodes., Conclusions: Ganglioneuromas are most common in children and very rarely occur in adults. However, it is still important to consider this entity in the differential for patients presenting with suspicious symptoms. While rare, it is essential to consider metastasis in this generally benign disease., (© 2021. The Author(s).)

Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht.

Introduction: Spinal ganglioneuroma (GN) is the most benign neoplasm of neuroblastic origin. There is little knowledge about spinal GN because of sporadic cases reported. The objective of this study is to describe the clinical manifestations and long-term follow-up outcomes of spinal GN after consecutive treatment., Methods: The clinical and follow-up data of 31 patients with spinal GN receiving consecutive treatment in our institute are retrospectively analyzed., Results: The mean age of the 31 patients was 40.39 ± 14.8 years. They were diagnosed with spinal GN and received surgical treatment in our institution between February 2012 and August 2019. Of them, 22 (71%) patients presented preoperative neurological symptoms. The mean duration from symptom onset to surgery was 19.76 ± 49.59 months. Eighteen patients received complete surgical resection and 13 patients received subtotal excision. In addition, radicotomy was performed simultaneously after sophisticated consideration in 19 patients. The follow-up period averaged 64.13 ± 22.67 months. The preoperative neurological dysfunction was improved significantly during the follow-up period in all cases. No local recurrence or malignant transformation has occurred so far., Conclusion: Spinal GN is a rare but benign neoplasm, and the origin of spinal GN remains controversial. With our experience, we propose that the origin of spinal GN from dorsal root ganglion should be equally considered as its counterpart of sympathetic ganglion. Complete resection is the preferred surgical strategy to avoid malignant events and recurrence. And the close postoperative follow-up observations are warranted., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Ganglioneuroma is an uncommon benign, slow-growing tumor arising from the neural crest. It rarely turns malignant even after decades of benign existence. Imaging modalities give a definite clue to the existence of a neurogenic mass but it is finally diagnosed on histopathology examination. Here, a 3-year-old girl presented with ganglioneuroma that mimicked renal mass on imaging in a tertiary care hospital, Dhaka, Bangladesh on January, 2016. Later on, it was confirmed as neuroganglioma by histopathological examination. As treatment differs widely between ganglioneuroma and nephroblastoma, a minor mistake in the accurate diagnosis may endanger the life of a patient through potential adverse effects of therapy. So, we should keep in mind about ganglioneuroma regarding evaluation of any kidney or abdominal masses.

Background: The preoperative evaluation is crucial for diagnosis and surgical plan of retroperitoneum ganglioneuroma (GN). In this study, we reviewed a relatively large series of histopathological proved retroperitoneum GN cases, summarized the imaging features and further depicted risk factors of increased surgical blood loss., Methods: A total of 35 (18 male, 17 female) patients were retrospectively enrolled from January 2012 to June 2019 at our institution. Among them, 24 patients had undergone CT scans and 19 patients had undergone MR examination before treatment. The clinical and radiological features were analyzed and the relationships between image features and surgical blood loss were evaluated., Results: The media age of the involved 35 patients was 40 years (range, 14-66 years). The histological tumor size was 10.12 ± 4.56 cm for average. Retroperitoneum GN was relatively low density on unenhanced CT images and showed delayed progressive enhancement on enhanced CT and MR images. The whorled sign could be seen in 14 patients. The vessel encasement sign could be found in 17 patients. Univariate analysis revealed maximal tumor size measured on axial image, maximal tumor size measured on coronal image, encasing one or both renal pedicles, encasing the aorta and/or vena cava and whorled sign on MRI showed significant difference between the blood loss ≥ 400 ml and blood loss < 400 ml group. Logistic regression further detected that maximal tumor size measured on axial images (OR: 1.12; 95% CI: 1.02-1.24; P = 0.023) and encasing one or both renal pedicles (OR: 22.39; 95% CI: 1.35-372.99; P = 0.030) were independently correlated with surgical blood loss., Conclusions: Preoperative CT and MR imaging analysis was valuable for both diagnosis and surgical risk prediction of retroperitoneum GN., (© 2021. The Author(s).)

Objective: To describe the presentation and outcomes of patients with adrenal ganglioneuromas (AGNs)., Design: Single-centre retrospective cohort study (1 January 1995 to 31 December 2019) and systematic review of literature (1 January 1980 to 19 November 2019)., Patients: Diagnosed with histologically confirmed AGN., Measurements: Baseline clinical, imaging and biochemical characteristics, recurrence rates and mortality. Subgroup analysis was performed on tumours with histologic elements of ganglioneuroma and pheochromocytoma (ie composite tumours)., Results: The cohort study included 45 patients with AGN, 20 (44%) of which had composite tumours. Compared to pure AGN, patients with composite tumour were older (median age, 62.5 vs. 35 years, p < .001), had smaller tumours (median size, 3.9 vs. 5.7 cm, p = .016) and were discovered incidentally less frequently (65% vs. 84%, p = .009). No recurrences or ganglioneuroma-specific mortality occurred during follow-up (range, 0-266 months). The systematic review included 14 additional studies and 421 patients. The mean age of diagnosis was 39 years, and 47% were women. AGNs were discovered incidentally in 72% of patients, were predominantly unilateral (99%) and had a mean diameter of 5.8 cm and an unenhanced computed tomography (CT) attenuation of -118 to 49 Hounsfield units (HU). On imaging, 69% of AGNs were homogenous, 41% demonstrated calcifications, and 40% were lobulated., Conclusions: AGNs are rare benign tumours that present with variable imaging features including large size, unenhanced CT attenuation >20 HU, calcifications and lobulated shape. Imaging characteristics can assist in establishing a diagnosis and avoiding an unnecessary adrenalectomy. The association of pheochromocytomas with AGNs is frequent. Diagnosis should include biochemical testing., (© 2021 John Wiley & Sons Ltd.)

BACKGROUND Ganglioneuromas (GNs) are benign neuroblastic tumors. These extra-cranial solid tumors are common in childhood but unusual in adults. Patients with GNs typically do not have any symptoms and the tumors usually are incidental findings. However, if a GN is large enough to compress adjacent organs, complications can occur. Furthermore, even in patients who have incomplete resection of a GN, long-term survival rates are high. After a GN is seen on imaging, the diagnosis usually is made with a biopsy and treatment is with surgery alone. CASE REPORT A 29-year-old woman was referred to General Surgery from the Gynecology Clinic for an incidental finding of an abdominal mass on routine ultrasound for secondary infertility and admitted for an investigation. Abdominal and pelvic computed tomography (CT) and magnetic resonance imaging showed a retroperitoneal mass that measured 6.318×22 cm arising from the paravertebral region with intraspinal extension. The mass was displacing the patient's thoracic aorta, abdominal inferior vena cava, and ureters. A CT-guided biopsy revealed a GN. Debulking surgery was performed and a small amount of residual tumor was left in the paravertebral nerve roots. The patient recovered well with no complications. The diagnosis of GN was confirmed with pathology, which was reviewed by the Tumor Board; the Board agreed that only follow-up in the Surgery Clinic was needed. During the patient's last visit, 10 months after surgery, a follow-up CT scan showed that the residual tumor was stable. CONCLUSIONS GNs are benign abdominal and retroperitoneal tumors that are typically asymptomatic and detected incidentally. Surgical resection is the treatment of choice and even when it is incomplete, the prognosis for patients is excellent.

Computed tomography (CT) scan is a useful and widely performed diagnostic modality to evaluate adrenal masses. Nature of the mass determines the degree of attenuation both in unenhanced and in different phases of contrast enhancement. Benign neurogenic tumours like ganglioneuroma mimicks pheochromocytoma and adrenocortical carcinoma in non-contrast CT scan. The 'adrenal protocol' routinely calculates the wash-out pattern at delayed venous phase (DVP) (15 min) following contrast administration to differentiate majority of benign masses from the malignant ones. Ganglioneuromas typically exhibit continuous wash-in of contrast where enhancement gradually increases to attain its peak in DVP. Such wash-in pattern is different from the wash-out pattern observed in pheochromocytomas or adrenocortical adenomas or carcinomas. Presence of this wash-in pattern provides a useful clue to the clinician for underlying ganglioneuroma in hormonally inactive adrenal masses with suspicious morphological appearances. This wash-in pattern also effectively rules out any malignant potential of ganglioneuroma, and thus helps in preoperative decision-making., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Dysplastic cerebellar gangliocytoma or Lhermitte-Duclos disease(LDD)is a rare benign cerebellar lesion composed of dysplastic ganglion cells that conform to the existing cortical architecture. In this disease, the enlarged ganglion cells are predominantly located within the internal granular layer, and they thicken the cerebellar folia. The architecture of the affected cerebellar hemisphere with the enlarged cerebellar folia and the cystic changes, in some cases, present as "tiger-striped striations," a characteristic imaging finding that is not specific to LDD. This imaging feature may be observed in medulloblastoma and isolated cerebellar Rosai-Dorfman disease. This cerebellar lesion is a major central nervous system manifestation of Cowden syndrome, an autosomal dominant condition that causes various hamartomas and neoplasms. A molecular-based study estimated the prevalence of Cowden syndrome to be 1 case per 200,000. In a study involving 211 patients with Cowden syndrome, 32% developed LDD. LDD can be diagnosed in young children and older adults within the eighth decades of life. PTEN mutations have been identified in virtually all adult-onset LDDs, but not in childhood-onset cases.

Dysplastic gangliocytoma of the cerebellum (DGC), also called Lhermitte-Duclos disease, is a rare lesion of the posterior fossa consisting of a diffuse hypertrophy of the cerebellar cortex. DGC frequently presents in young adults and rarely in childhood. Only 3 cases have been previously described in newborns. We present an uncommon case of DGC which was diagnosed in utero. The radiological presentation prenatally and at birth was similar to a heterotopic neuroglial brain tissue. MRI aspects evolved from T1/T2 isointense signals to hypoT1 and hyperT2 signals at the age of 1 year. The girl was then operated on total removal of the lesion which was performed with no postoperative complication. Genetics did not demonstrate any germline PTEN mutation or family history suggesting Cowden disease. Two years later, the child was doing well and MRI confirmed complete resection. This case illustrates the difficulties of diagnosing intracranial lesions in foetuses and newborns. Physicians caring for pregnant women and pediatrics should be aware that neoplasm-like lesions such as DGC may present as hamartomas. Surgical resection could then be discussed whenever possible.

Competing Interests: Competing interests: None declared.

Background: To assess the feasibility and possible value of semi-automated diffusion weighted imaging (DWI) volumetry of whole neuroblastic tumors with apparent diffusion coefficient (ADC) map evaluation after neoadjuvant chemotherapy., Methods: Pediatric patients who underwent surgical resection of neuroblastic tumors at our institution from 2013 to 2019 and who received a preoperative MRI scan with DWI after chemotherapy were included. Tumor volume was assessed with a semi-automated approach in DWI using a dedicated software prototype. Quantitative ADC values were calculated automatically of the total tumor volume after manual exclusion of necrosis. Manual segmentation in T1 weighted and T2 weighted sequences was used as reference standard for tumor volume comparison. The Student's t test was used for parametric data while the Wilcoxon rank sum test and the Kruskal-Wallis test were applied for non-parametric data., Results: Twenty seven patients with 28 lesions (neuroblastoma (NB): n = 19, ganglioneuroblastoma (GNB): n = 7, ganglioneuroma (GN): n = 2) could be evaluated. Mean patient age was 4.5 ± 3.2 years. Median volume of standard volumetry (T1w or T2w) was 50.2 ml (interquartile range (IQR): 91.9 ml) vs. 45.1 ml (IQR: 98.4 ml) of DWI (p = 0.145). Mean ADC values (× 10 - 6  mm 2 /s) of the total tumor volume (without necrosis) were 1187 ± 301 in NB vs. 1552 ± 114 in GNB/GN (p = 0.037). The 5th percentile of ADC values of NB (614 ± 275) and GNB/GN (1053 ± 362) provided the most significant difference (p = 0.007) with an area under the curve of 0.848 (p < 0.001)., Conclusions: Quantitative semi-automated DWI volumetry is feasible in neuroblastic tumors with integrated analysis of tissue characteristics by providing automatically calculated ADC values of the whole tumor as well as an ADC heatmap. The 5th percentile of the ADC values of the whole tumor volume proved to be the most significant parameter for differentiation of the histopathological subtypes in our patient cohort and further investigation seems to be worthwhile.

Background: Choroidal ganglioneuroma is an extremely rare tumor, and there is little knowledge regarding its pathogenesis. We aimed to investigate the phenotypic and genetic alterations in one sporadic patient with a rare case of bilateral choroidal ganglioneuroma., Methods: A 6-year-old boy with histological diagnosis of bilateral ganglioneuroma was recruited for the study. Comprehensive ophthalmic examinations were performed. Genomic DNA was extracted from the peripheral blood samples collected from the patient, his unaffected family members, and 200 unrelated control subjects from the same population. Whole exome sequencing was performed and raw reads were aligned to the human genome reference (hg19) using Burrows-Wheeler Aligner. DNA from all available family members was Sanger sequenced for segregation analysis., Results: Extensive bilateral retinal detachments were observed via optical coherence tomography. Diffuse thickening of choroid was identified with ultrasound B scan and magnetic resonance imaging. Genetic analysis revealed the presence of a novel heterozygous PTEN frameshift mutation, c.498delA (p.Thr167LeufsTer16), in exon 6. It was present in the affected individual, but not in any of the family members. Genetic analysis revealed that there was no mutation in neurofibromatosis-related genes in the family. Upon performing comprehensive systemic examinations, no obvious abnormalities in other organs were observed., Conclusions: A novel de novo PTEN mutation was identified in a patient with bilateral choroidal ganglioneuroma. Although PTEN mutations are known to induce multiple abnormalities, choroidal ganglioneuroma can be the first manifestation without abnormalities in other organs. Further studies are needed to confirm the association between choroidal ganglioneuroma and PTEN mutation.