[Multiple endocrine neoplasia type 2; MEN 2].
Multiple endocrine neoplasia type 2 (MEN 2) is an inherited disorder as an autosomal dominant trait, characterized by medullary thyroid carcinoma (MTC). MEN 2 is classified with associated diseases into three subtypes: MEN 2A, MEN 2B and familial MTC. It has recently been shown to be associated with germline mutation in the RET proto-oncogene. Genetic testing allows easily for accurate diagnosis of presymptomatic gene carriers and surgical treatment at an early stage of the disease. In this review we delivered the classification, clinical feature, mutation in RET, mutation analysis, and management of MEN 2, and we discuss recent progress of research on the molecular basis and how genetic testing could be used for clinical management of affected patients or individuals in at-risk families.
Department of Surgery, Kochi Medical School.
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Matsuura
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Araki
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics; D018095:Germ-Line Mutation; D006801:Humans; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics; D000090063:Proto-Oncogene Mas; D011519:Proto-Oncogenes / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics