[Surgically Resected Cases of Mediastinal Ganglioneuroma Detected in Adults].

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.

Benign paraspinal ganglioneuroma with paraneoplastic opsoclonus myoclonus syndrome.

Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare immune-mediated movement disorder occurring as a paraneoplastic manifestation of neuroblastic tumours (NTs), especially neuroblastoma in infancy. Ganglioneuroma (GN), the benign tumour in the spectrum, is rarely associated with OMAS. We report the case of a child in her second year of life presenting with acute onset of progressive paraplegia and OMAS. MRI showed diffuse and infiltrating left paraspinal mass from T3-T9 levels with differentials of neuroblastoma or ganglioneuroblastoma. Histopathological and immunohistochemistry examination of the excised tumour showed maturing GN. The OMAS was managed with intravenous immunoglobulin and steroids. In the 6-month follow-up, the child has a residual motor weakness with myelomalacia in neuroimaging. The case report substantiates the occurrence of OMAS as paraneoplastic manifestation in NTs, including benign, in children younger than 2 years with a female predilection.

Anti-metabolic glutamate receptor 5 encephalitis with gangliocytoma: a case and review of the literature.

BACKGROUND: There are very limited reports on anti-metabolic glutamate receptor5 (mGluR5) encephalitis, especially lacking of pediatric research. The disease was mostly accompanied by tumors, mainly Hodgkin's lymphoma. No reports of other tumors, such as gangliocytoma have been reported to associate with anti-mGluR5 encephalitis so far. CASE PRESENTATION AND LITERATURE REVIEWS: We reported a case of a 12-year-old boy with anti-mGluR5 encephalitis complicated with gangliocytoma. The patient suffered from mental disorders including auditory hallucination, and sleep disorders. His cranial magnetic resonance imaging (MRI) showed an abnormality in the right insular lobe. Autoimmune encephalitis antibodies testing was positive for mGluR5 IgG antibody both in cerebrospinal fluid and serum (1:3.2, 1:100 respectively). Abdominal CT indicated a mass in left retroperitoneal confirmed with gangliocytoma via pathology. The patient underwent resection of gangliocytoma. After first-line immunotherapy (glucocorticoid, gamma globulin), his condition was improved. Furthermore, we provide a summary of 6 pediatric cases of Anti-mGluR5 encephalitis. Most of them complicated with Hodgkin's lymphoma, except the case currently reported comorbid with gangliocytoma. The curative effect is satisfactory. CONCLUSIONS: We report the first patient with anti-mGlur5 encephalitis complicated with gangliocytoma. It suggests that in addition to paying attention to the common lymphoma associated with anti-mGlur5 encephalitis, we should also screen the possibility of other tumors for early detection of the cause, active treatment and prevention of recurrence.

Ganglioneuroma Arising in Congenital Melanocytic Nevus in a Patient with Cardiac Anomalies: A Case Report.

A congenital melanocytic nevus is a benign melanocyte proliferation, that may be complicated by malignant transformation. We are reporting a three-year-old girl, who had a giant congenital melanocytic nevus on her back, that was treated by serial surgical excisions with tissue expander insertion. Histopathological examination confirmed the diagnosis of congenital melanocytic nevus with ganglioneuroma. Out of approximately 250 case reports on congenital melanocytic nevus, we identified only two reports of medium/large congenital melanocytic nevus with cutaneous ganglioneuroma. Due to the potential malignant transformation of congenital melanocytic nevus, reporting the features and characteristics of such rare findings may help in further understanding congenital melanocytic nevus, its associations, and prognosis.

Ganglioneuromas in Childhood: Hacettepe Experience With 70 Cases.

BACKGROUND: Ganglioneuromas (GNs) are rare benign peripheral neuroblastic tumors (PNTs). We shared our institutional experience with childhood GNs. METHODS: Records of the children with PNTs between January 1995 and December 2021 were reviewed, and cases with histopathological diagnoses of GN were identified. Clinical, laboratory, radiological, and histopathological findings, image-defined risk factors (IDRFs), procedures, and overall outcomes were recorded. RESULTS: Of 668 cases with PNTs, 70 (10.4%) had GNs. The median age was 7.4 years (range, 2.6-15.7 years) (girls/boys, 41/29). Common presenting complaints were abdominal pain and cough; 33/70 cases (47.1%) were diagnosed incidentally. Primary tumors were in the abdomen in 41/70, the thorax in 25/70, the neck in 3 cases, and the pelvis in one. The median tumor size was 6.5 cm (range, 1.4-17). Fifty cases (71.4%) were staged as INRG-L1; 20 cases with IDRFs (15 single, five >1) were staged as INRG-L2. Complete and partial tumor resections were performed in 58/70 and 6/70 cases, while 6 had no resection. The overall complication rate was 17.1% (11/64). At a median follow-up of 9 years, five were lost to follow-up; 65 were alive. One patient with gross residue underwent total resection due to progression 13 years after the surgery, and one in the unresected group was lost to follow-up. Ten other cases without a complete resection experienced no tumor progression. CONCLUSIONS: Ganglioneuromas are benign PNTs, and most are free of IDRFs. Even without complete resection, long-term outcomes are excellent. Guidelines should be devised considering the high surgical complication rates and benign course of GNs. LEVEL OF EVIDENCE: Case series, IV.

Composite paraganglioma-ganglioneuroma with atypical catecholamine profile and phenylethanolamine N-methyltransferase expression: a case report and literature review.

Pheochromocytomas and paragangliomas (PPGLs) are rare tumors that secrete catecholamines and arise from the adrenal medulla or extra-adrenal sympathetic ganglia. These tumors secrete adrenaline and noradrenaline, but paragangliomas usually produce only noradrenaline because of the lack of phenylethanolamine N-methyltransferase (PNMT) expression. Composite paragangliomas, which are complex tumors consisting of multiple types of neuroblastic cells, are extremely rare. We present the case of a 46-year-old woman with an atypical catecholamine profile who was preoperatively diagnosed with pheochromocytoma. However, postoperative pathology revealed that the patient had an extra-adrenal paraganglioma accompanied by a ganglioneuroma, which led to the diagnosis of a composite tumor. Interestingly, PNMT is expressed in both paragangliomas and ganglioneuromas. In addition, we reviewed reported composite paragangliomas and compared their clinical features with those of composite pheochromocytomas. We also discuss various aspects of the etiology of composite paragangliomas and the mechanism by which PNMT is expressed in tumors.

En Bloc Resection of a Giant Ganglioneuroma of the Chest Through Clamshell Thoracotomy.

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.

Diagnostic imaging of a rare case of incidental adrenal ganglioneuroma.

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.

Epidemiological and clinical characteristics of children with peripheral neuroblastic tumors: a study on a Moroccan population.

PURPOSE: Peripheral neuroblastic tumors are the most common extracranial cancers found in children, and they are characterized by a diverse spectrum of clinical manifestations and heterogeneous behaviors. This study aimed to investigate the epidemiological and clinical characteristics of children with peripheral neuroblastic tumors admitted to the Department of Pediatric Hematology and Oncology of the Hospital August 20 in Casablanca. METHODS: The medical files of 48 children with peripheral neuroblastic tumors addressed to our department between February 2018 and February 2023 were reviewed. The clinical and demographic characteristics of patients were analyzed by the Statistical Package for the Social Sciences (SPSS), survival curves were obtained by Kaplan-Meier technique, and we assigned the tumor stage to patients based on the International Neuroblastoma Risk Group Staging System (INRGSS). RESULTS: The median age of diagnosis was 30 months (1-174), with a ratio F/M of 1.28. 93.75% of patients had neuroblastoma, and the rest had ganglioneuroma. About 64.6% of patients had at their initial presentations stage M of peripheral neuroblastic tumors. The adrenal region made up 71% of the primary tumor site. The bone was one of the most prevalent metastatic sites (54.2%). The five-year overall survival rate was 35.4%. CONCLUSION: Overall, this study revealed a high stage of peripheral neuroblastic tumors in the majority of the diagnosed patients in our Department of Pediatric Hematology and Oncology. Moreover, the heterogeneity of peripheral neuroblastic tumors makes clinical recognition difficult and, in general, too late.

[Peripheral neuroblastic tumors in childhood]. / Periphere neuroblastische Tumoren im Kindesalter.

Peripheral neuroblastic tumors represent the fourth-largest group of malignant tumors in childhood. The majority of these tumors are neuroblastomas, which can be classified into undifferentiated, poorly differentiated, and differentiating subtypes. In addition, peripheral neuroblastic tumors include ganglioneuroblastoma, a composite tumor composed of Schwannian cell stroma and neuroblasts as well as benign ganglioneuroma. In this overview, histopathological diagnostic criteria and grading systems, as well as common molecular alterations that are of prognostic and therapeutic significance, are discussed.

Preoperative differentiation of mediastinum and retroperitoneum ganglioneuroma from schwannoma with clinical data and enhanced CT: developing a multivariable prediction model.

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.

Spinal Ganglioneuroma: A Systematic Review of the Literature.

OBJECTIVE: Spinal ganglioneuromas (GNs) are rare benign tumors that often manifest as symptoms related to the compression of neural elements. The preferred treatment for affected patients is surgical resection, which typically improves symptoms and accompanies a low likelihood of tumor recurrence. We conducted a systematic review of reports of GNs involving the spinal cord and nerve roots, examining their clinical presentation, surgical management, and outcomes. METHODS: Using the keywords "ganglioneuroma" and "spinal," we conducted a systematic database review of MEDLINE (PubMed), Scopus, and Embase, querying studies reporting cases of spinal GNs. Patients' demographics, location of the tumors, clinical features, and surgical outcomes were extracted from eligible articles. RESULTS: A total of 93 spinal GN cases in 52 case reports/series met our criteria. Data analysis revealed a general male predominance, though thoracic spinal GNs were seen more in females. The mean age of patients with cervical, thoracic, thoracolumbar, and lumbar spinal GNs were 41.28, 27.65, 15.61, and 38.73 years, respectively. Multiple-level GNs were mostly seen in male patients or individuals with neurofibromatosis type 1. In all but 1 case, recurrence and reoperation were not reported in the short-term (months) and long-term (2-10 years) follow-up. CONCLUSIONS: We found unique epidemiologic characteristics for patients with GNs of different spinal regions. The treatment of choice is achieving gross total resection, but given the eloquency of the lesions, achieving decompression via subtotal resection can also be associated with improved outcomes. To date, no global postoperative surveillance protocol exists, considering the low recurrence rate and relevant cost-benefit ratios.

Image-defined risk factors in localized thoracic neuroblastoma and ganglioneuroma.

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.

A giant lobular thoracic ganglioneuroma cause skeletal erosion: A case report and literature review.

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.

Identification and validation of radiomic features from computed tomography for preoperative classification of neuroblastic tumors in children.

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.

Extra-adrenal peripheral neuroblastic tumors: A clinicopathological study of 18 cases.

Background: Peripheral neuroblastic tumors arise from the sympathoadrenal lineage of the neural crest. They have been classified according to the International Neuroblastoma Pathology Committee (INPC) into Four categories according to International Neuroblastoma Pathology Committee (INPC): a) Neuroblastoma (NB) b) Ganglioneuroblastoma (GNB), nodular c) Ganglioneuroblastoma, intermixed, and d) Ganglioneuroma (GN). Because of the rarity of extra-adrenal peripheral neuroblastic tumors, limited information is available regarding the chemotherapy of NB and GNB. A few case reports or case series with a small number of patients have been documented in the literature. Aim: To describe the clinicopathological characteristics of extra-adrenal peripheral neuroblastic tumors. Materials and. Methods: Clinical, histopathological, and immunohistochemistry (IHC) findings of 18 cases were retrieved. Immunohistochemistry at the time of diagnosis was performed using Ventana Benchmark XT. The mean value was calculated using the Microsoft Office Excel 2019 software. Results: The posterior mediastinum was the most commonly affected extra-adrenal site in our study. Neuroblastoma consisted of eight cases (six in children, two in adults), of which four cases were poorly differentiated and the other four cases were differentiating. Two cases had favorable histology. The bone marrow and cervical lymph node metastasis were documented. Of the four GNB cases, one patient developed bone metastasis. All patients of NB and GNB received combination chemotherapy. One out of six GN patients presented with a large retroperitoneal mass encasing the aorta and renal vessels, mimicking a sarcoma. Conclusion: Extra-adrenal peripheral neuroblastic tumors do not pose any diagnostic issue in adequate tissue sampling. In limited material, immunohistochemistry is needed. The chemotherapy regimen has not been standardized due to rarity. Further molecular testing and targeted therapy may be of help in the future.