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ACG Case Reports Journal Mar 2021Pancreatic ganglioneuromas occur mostly in children and rarely in young adults, with no cases reported in adults older than 60 years. An 86-year-old-woman, with active...
Pancreatic ganglioneuromas occur mostly in children and rarely in young adults, with no cases reported in adults older than 60 years. An 86-year-old-woman, with active advanced multiple myeloma, presented with epigastric pain for 2 days. Abdominal and pelvic computed tomography demonstrated a distended gallbladder, mildly dilated biliary tree, and a 13 × 8-mm hypodense mass in pancreatic body, without extrapancreatic invasion at endoscopic ultrasound. Fine-needle endoscopic ultrasound-guided core biopsy revealed characteristic histopathology of ganglioneuroma, as confirmed by immunohistochemical positivity for S100, SOX-10, and synaptophysin. This demonstrates novel finding of pancreatic ganglioneuroma occurring in the elderly. Lesion inclusion in the differential diagnosis may mandate tissue for pathologic diagnosis and complete lesion resection.
PubMed: 33763500
DOI: 10.14309/crj.0000000000000546 -
Molecular and Clinical Oncology Jun 2018Adrenal collision tumors (ACTs) are distinct tumors that occur simultaneously in the same adrenal gland and are very rare. We herein report the case of a 56-year-old...
Adrenal collision tumors (ACTs) are distinct tumors that occur simultaneously in the same adrenal gland and are very rare. We herein report the case of a 56-year-old woman who was admitted to the hospital for medical imaging. The findings of the physical and laboratory examinations, including endocrine function, were unremarkable. Contrast-enhanced computed tomography of the abdomen revealed a 28×20×33-mm mass in the left adrenal medial limb, for which a laparoscopic surgery was performed. Postoperative pathological examination revealed two distinct tumors, namely a parachordoma and a ganglioneuroma. To the best of our knowledge, and following a thorough literature search, this is the first report of coexisting parachordoma and ganglioneuroma in the same adrenal gland.
PubMed: 29844903
DOI: 10.3892/mco.2018.1610 -
Diagnostics (Basel, Switzerland) Dec 2022Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene (17q11.2),...
Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene (17q11.2), predisposing affected subjects to a variety of benign (neurofibromas and plexiform neurofibromas) and malignant tumors. The lack of the NF1-neurofibromin gene product can cause uncontrolled cell proliferation in the central or peripheral nervous system and multisystemic involvement, and so the disease includes a heterogeneous group of clinical manifestations. Ganglioneuromas are benign tumors developing from the neural crest cells of the autonomic nervous system, considered to be part of neuroblastic tumors. Bladder localization is extremely rare in adults, and only three such cases were reported in children so far. The aim of our study, in addition to a brief review of the literature of these pathologies, is to bring to your attention the case of a sixteen year old patient with a very rare association of NF1 and bladder ganglioneuroma, who presented at the hospital with gross hematuria. Since bladder ganglioneuroma is a rare pathological condition, the differential diagnosis is difficult and imaging investigations and pathological investigations are the ones that elucidate this disease. The clinical approach of the medical multidisciplinary team involved should help the patient in managing her medical and surgical situation.
PubMed: 36553133
DOI: 10.3390/diagnostics12123126 -
Reports of Practical Oncology and... 2022
PubMed: 36523796
DOI: 10.5603/RPOR.a2022.0095 -
Urology Journal 2008
Topics: Ganglioneuroma; Humans; Male; Middle Aged; Retroperitoneal Neoplasms
PubMed: 19101895
DOI: No ID Found -
European Review For Medical and... Apr 2013To evaluate diagnosis and treatment experience for adrenal ganglioneuroma and provide data for clinical surgery.
AIM
To evaluate diagnosis and treatment experience for adrenal ganglioneuroma and provide data for clinical surgery.
PATIENTS AND METHODS
Analysis clinical feature and iconography and endocrine examination and clinical data of 29-cases adrenal ganglioneuroma in our Hospital.
RESULTS
Back discomfort in 10 cases and convulsivum dizziness in 6-cases (hypertension in 2 cases), central obesity in 1 case. 12-cases were found by physical examination. 9-cases were diagnosed as adrenal ganglioneuroma and others were diagnosed as adrenal tumor. After operation, all of the cases were diagnosed as adrenal ganglioneuroma by pathology. Beside one patient were still dizzy with BP (blood pressure): 150/95 mmHg, all of patients completly recovered.
CONCLUSIONS
For diagnosis on adrenal ganglioneuroma, we should depend on iconography and pathology. The operation is main method and most of patients can be cured.
Topics: Adrenal Gland Neoplasms; Adult; Female; Ganglioneuroma; Humans; Magnetic Resonance Imaging; Male; Tomography, X-Ray Computed; Vanilmandelic Acid
PubMed: 23661526
DOI: No ID Found -
BMJ Case Reports Nov 2016Ganglioneuroma (GN) is the uncommon, benign representative of the peripheral neuroblastic tumours (PNTs), which arise from primitive sympathetic ganglion cells. PNTs... (Review)
Review
Ganglioneuroma (GN) is the uncommon, benign representative of the peripheral neuroblastic tumours (PNTs), which arise from primitive sympathetic ganglion cells. PNTs comprise one of the most common groups of neoplastic diseases in infants and children, but its occurrence in the pancreas is rare. We report a 4-year-old girl with GN of the pancreas requiring pancreaticoduodenectomy as a definitive therapy and with a great outcome, and we review the published literature.
Topics: Child, Preschool; Female; Ganglioneuroma; Humans; Pancreatic Neoplasms; Pancreaticoduodenectomy
PubMed: 27873762
DOI: 10.1136/bcr-2016-217425 -
Journal of Neurosurgery. Case Lessons Jan 2023Ganglioneuroma is a benign and well-differentiated tumor derived from neural crest cells, which occurs infrequently, with most patients being female and adolescents....
BACKGROUND
Ganglioneuroma is a benign and well-differentiated tumor derived from neural crest cells, which occurs infrequently, with most patients being female and adolescents. While predilection sites are the posterior mediastinum and retroperitoneal cavity, ganglioneuroma originating from the dorsal root ganglion is very rare. Here the authors report a case with C2 dorsal root ganglion-derived ganglioneuroma with some literature review.
OBSERVATIONS
A 45-year-old male patient complained of persistent right-side throbbing occipital headache for more than a year. Magnetic resonance imaging (MRI) of the cervical spine revealed a dumbbell-shaped intradural extramedullary tumor from the C2 posterior surface of the odontoid to right C1-2 intervertebral foramen with high T2- and low T1-weighted signal intensities. The tumor displayed homogeneous contrast enhancement by MRI. The authors suspected schwannoma and performed a tumorectomy for both diagnosis and treatment purposes. Intraoperative findings showed that the tumor originated from the dorsal root ganglion, and pathological examination revealed ganglioneuroma. Immediately after the tumorectomy, the throbbing occipital headache disappeared and the patient was discharged from the hospital without major complications.
LESSONS
Although ganglioneuroma derived from the dorsal root ganglion is very rare, a differential diagnosis of the ganglioneuroma should be made, when schwannoma is suspected.
PubMed: 36647254
DOI: 10.3171/CASE22456 -
Italian Journal of Pediatrics Mar 2021Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as... (Review)
Review
BACKGROUND
Intestinal Ganglioneuromatosis (IG) is a rare disorder of the enteric nervous system. In pediatric age it is often associated with genetic syndromes such as Neurofibromatosis 1 (NF1), multiple endocrine neoplasia type 2B (MEN2B) and Cowden syndrome (PTEN mutation), and ganglioneuromas (GNs) may be sometimes the first sign of the disease. Isolated GNs are rare and sporadic. Clinical symptom vary and depend on the size and on the location of the GNs. This disorder affects intestinal motility and it, consequently, causes changes in bowel habits, abdominal pain, occlusive symptoms and rarely lower gastrointestinal bleeding secondary to ulceration of the intestinal mucosa. On the other hand, patients can remain asymptomatic for many years.
CASE PRESENTATION
We describe a 9-year-old boy referred to our emergency department for right lower quadrant abdominal pain. No familial history for gastrointestinal disorders. No history of fever or weight loss. At physical examination, he had diffused abdominal pain. Abdominal ultrasonography showed a hypoechoic formation measuring 41.8 mm by 35 mm in the right lower quadrant of the abdomen. Routine blood tests were normal, but fecal occult blood test was positive. Abdominal TC confirmed the hypodense formation, of about 5 cm in transverse diameter, in the right hypochondrium that apparently invaginated in the caecum-last ileal loop. Colonoscopy showed in the cecum an invaginated polypoid lesion of the terminal ileal loop. Laparoscopic resection of the polypoid lesion was performed. Histological diagnosis of the large neoplasm observed in the terminal ileum was diffuse ganglioneuromatosis. NF1, RET and PTEN gene tests resulted negative for specific mutations. At the 1 year follow-up, the patient presented good general condition and blood tests, fecal occult blood test, esophagogastroduodenoscopy, colonoscopy and MR-enterography were negative.
CONCLUSIONS
Only few cases are reported in literature of IG in pediatric age. Although rare, the present case suggests that this disorder must be taken in consideration in every patient with GI symptoms such as abdominal pain, constipation, lower intestinal bleeding, in order to avoid a delayed diagnosis.
Topics: Abdominal Pain; Child; Colon; Colonoscopy; Digestive System Neoplasms; Ganglioneuroma; Humans; Male; Multiple Endocrine Neoplasia Type 2b; Tomography, X-Ray Computed; Ultrasonography
PubMed: 33785023
DOI: 10.1186/s13052-021-01024-5 -
Frontiers in Endocrinology 2020() is a tumor suppressor gene and has been identified as one of the pathogenic genes of hereditary pheochromocytoma (PCC). To date, there have been no reports of... (Review)
Review
() is a tumor suppressor gene and has been identified as one of the pathogenic genes of hereditary pheochromocytoma (PCC). To date, there have been no reports of ganglioneuroma (GN) with variants. The proband was a 45-years-old Chinese female with paroxysmal hypertension and palpitations who had undergone adrenalectomy for PCC 14 years ago. Her plasma free normetanephrine and 24-h urinary norepinephrine excretion were significantly increased, and abdominal computed tomography (CT) revealed an irregular mass in the left adrenal region, suggesting a recurrence of PCC. The mass was surgically removed and pathologically diagnosed as PCC with lymph node metastasis. The proband's son suffered from paroxysmal hypertension and palpitations. His plasma free metanephrine levels were normal. CT revealed a mass in the right adrenal. The tumor was surgically removed, and the pathological diagnosis was GN. Genetic testing of peripheral blood DNA revealed that the proband and her son had germline pathogenic variant c.C97T, p.Arg33Ter, while proband's parents did not have variants. Tumor DNA sequencing showed the same variant (c.C97T, p.Arg33Ter) in PCC of the proband and GN of her son, both with retention of heterozygosity. Immunohistochemistry demonstrated loss of MAX protein expression in most tumor cells in PCC of the proband and some Schwannian cells in GN of the proband's son. We report a family with a new clinical phenotype of germline pathogenic variants in who developed both PCC and GN. Germline pathogenic variants in may contribute to the development of GN. Our findings suggest that it is not just paternally inherited variants that can cause tumors.
Topics: Adrenal Gland Neoplasms; Basic-Leucine Zipper Transcription Factors; China; Female; Ganglioneuroma; Germ-Line Mutation; Humans; Middle Aged; Phenotype; Pheochromocytoma
PubMed: 32973681
DOI: 10.3389/fendo.2020.00558