Multiple endocrine neoplasias type 2B and RET proto-oncogene.

Italian Journal of Pediatrics
G MartuccielloSergio Bernasconi

Abstract

Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. Th...Continue Reading

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Citations

Sep 18, 2014·Birth Defects Research. Part C, Embryo Today : Reviews·Parinya Noisa, Taneli Raivio
Oct 25, 2012·Case Reports in Medicine·Banafshe ShahnazariAbdolreza Babamahmoodi
Jul 13, 2017·Endocrine-related Cancer·Frederic CastinettiSteven G Waguespack
Oct 4, 2017·Pediatrics in Review·Matthias KochmannSheila Perez-Colon
Nov 8, 2019·Radiographics : a Review Publication of the Radiological Society of North America, Inc·T Shawn SatoYutaka Sato

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Methods Mentioned

BETA
biopsy
biopsies
PCR
prophylactic surgery
dissection

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