Molecular Diagnosis of Ret Proto-Oncogene Mutation in Multiple Endocrine Neoplasia Type 2B (Men 2B). 17
نویسندگان
چکیده
منابع مشابه
Multiple endocrine neoplasias type 2B and RET proto-oncogene
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...
متن کاملLate diagnosis of type 2B multiple endocrine neoplasia (MEN 2B) in a 23 year-old patient.
We present a case of MEN 2B diagnosed in a 23 year-old patient on the basis of bilateral pheochromocytoma and medullary thyroid carcinoma. This young male patient also had multiple paragangliomas located along the spine, marfanoid features of body habitus and numerous mucosal neuromas of the oral cavity and intestinal ganglioneuromatosis. The patient was hospitalised several times between the a...
متن کاملA mutation in the RET proto-oncogene in Hirschsprung's disease affects the tyrosine kinase activity associated with multiple endocrine neoplasia type 2A and 2B.
We demonstrate that a Hirschsprung (HSCR) mutation in the tyrosine kinase domain of the RET proto-oncogene abolishes in cis the tyrosine-phosphorylation associated with the activating mutation in multiple endocrine neoplasia type 2A (MEN2A) in transiently transfected Cos cells. Yet the double mutant RET2AHS retains the ability to form stable dimers, thus dissociating the dimerization from the p...
متن کاملMultiple endocrine neoplasia type 2B in a Chinese patient.
Multiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 91...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1998
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199802000-00040