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Solitary Colonic Ganglioneuroma With Central Depression: A Rare Case With Unique Morphology.
Am J Gastroenterol
October 2024
Department of Gastroenterology, Hiroshima University Hospital, Hiroshima, Japan.
Article Synopsis
- Multiple endocrine neoplasia type 2B (MEN 2B) is a hereditary cancer syndrome involving medullary thyroid carcinoma, pheochromocytoma, parathyroid adenomas, ganglioneuromas, and musculoskeletal issues.
- A 31-year-old male with MEN 2B presented with ganglioneuromas in his colon and elevated normetanephrine levels, which help diagnose pheochromocytoma.
- He underwent partial thyroid surgery for a goiter and was admitted to Gastroenterology for further evaluation of his condition.
Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.
Clin J Gastroenterol
August 2024
Department of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical Sciences, Kyushu University, Fukuoka, Japan.
Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B.
View Article and Find Full Text PDFDiagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC Med Genomics
July 2023
Imagerie Moléculaire Et StratégiesThéranostiques, Université Clermont Auvergne, INSERM, U1240, 63000, Clermont Ferrand, France.
Background: PTEN hamartoma syndrome (PHTS) is an autosomal dominant disorder characterized by pathogenic variants in the tumor suppressor gene phosphatase and tensin homolog (PTEN). It is associated with an increased risk of muco-cutaneous features, hamartomatous tumors, and cancers. Mosaicism has been found in a few cases of patients with de novo PHTS, identified from blood samples.
View Article and Find Full Text PDFColonic Ganglioneuroma: A Combined Single-Institution Experience and Review of the Literature of Forty-Three Patients.
Diseases
May 2023
Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA.
Ganglioneuromas (GNs) are rare, benign tumors composed of ganglion cells, nerve fibers, and glial cells. Three types of colonic GN lesions exist: polypoid GNs, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. Less than 100 cases of GN are documented in the literature.
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