双侧肾上腺嗜铬细胞瘤伴RET癌基因L790F突变。

Journal of the Korean Surgical Society Pub Date : 2012-03-01 Epub Date: 2012-02-27 DOI:10.4174/jkss.2012.82.3.185
Jun Won Min, Youn Joon Park, Hee Jin Kim, Myung-Chul Chang
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引用次数: 3

摘要

大约10%的嗜铬细胞瘤与家族综合症有关。遗传性嗜铬细胞瘤具有发病早、多灶性和双侧性的特点。我们有一例44岁男性双侧嗜铬细胞瘤,无甲状腺髓样癌的证据。基因检测发现RET癌基因L790F种系突变。作者发现有必要对年轻的双侧嗜铬细胞瘤病例进行基因检测。
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Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene.

About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma without evidence of medullary thyroid cancer. Genetic test detected a L790F germline mutation of RET oncogene. The author found a necessity for genetic tests in cases of young-age, bilateral pheochromocytoma.

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