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Carney triad (CT) is characterized by the coexistence of three types of neoplasms, mainly in young women,〔OMIM - Online Mendelian Inheritance in Man. Carney Triad (OMIM 604287) http://www.omim.org/entry/604287〕 including gastric gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paraganglioma.〔Carney JA. "The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review." ''Medicine'' (Baltimore). 1983;62(3): 159-169.〕 The underlying genetic defect remains elusive. CT is distinct from Carney complex, which is part of the MEN syndrome, and the Carney-Stratakis syndrome. ==Background== Carney triad (CT), named for J. Aiden Carney, is considered to be a specific type of multiple endocrine neoplasia (MEN). The three classically associated tumors are a subset of gastric epithelioid leiomyosarcoma (it is now known that this subset is actually gastrointestinal stromal tumor arising from the cells of Cajal), pulmonary chondroma, and extra-adrenal paraganglioma.〔 The condition manifests more commonly in females. Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but the underlying genetic basis has not been identified.〔 In addition to these three classical tumors, there is an increased incidence of pheochromocytoma, esophageal leiomyoma and adrenocortical adenoma.〔Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med. 2009;266(1):43. PMID 19522824〕 The original description employed the then-prevailing terminology of gastric epithelioid leiomyosarcoma. Subsequent advances in molecular biology have led to the current terminology of gastrointestinal stromal tumors (GISTs).〔Boccon-Gibod L, Boman F, Boudjemaa S, Fabre M, Leverger G, Carney AJ. "Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome." ''Pediatr Dev Pathol''. 2004;7(4):380-4.〕 However, there is limited evidence to suggest that the gastrointestinal stromal tumors (GIST) in Carney triad lack CD117 (c-kit) mutations (i.e., they are wild-type), and hence these GISTs may prove unresponsive to Gleevec.〔Diment J, Tamborini E, Casali P, Gronchi A, Carney JA, Colecchia M. "Carney triad: case report and molecular analysis of gastric tumor." ''Hum Pathol''. 2005;36(1):112-6.〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Carney's triad」の詳細全文を読む スポンサード リンク
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