CEA异常升高首诊的遗传性甲状腺髓样癌家系的临床诊治和基因突变分析

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Abstract In clinical work, patients with abnormal serum CEA (carcino-embryonic antigen) levels increased at first visit, in the conventional examination showed no signs of tumor, easily missed diagnosis of medullary thyroid carcinoma. PET/CT (positron-emission tomography/computer tomography) can provide clues for early localization of lesions. A case of abnormal increase of serum CEA level for the first time treated in Daping Hospital, the Army Military University, first of gastrointestinal tumors for examination had no system signs of tumor, further PET/CT examination revealed thyroid lesions. The postoperative pathology proved to be a thyroid medullary carcinoma. Further RET proto oncogene detection suggested that p.Cys634Tyr heterozygote mutation, two members of the family carrying the gene mutation. Both parathyroid hyperplasia and adrenal hyperplasia were found at the same time. The clinical manifestations of family patients may be in line with familial hereditary medullary thyroid carcinoma or multiple endocrine neoplasm type 2A (Family medullary thyroid carcinom/Multiple endocrine neoplasia type 2A; FMTC/MEN2A).

Key words： CEA Positron-emission tomography/computer tomography Multiple endocrine neoplasia type 2A RET protooncogene

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	ZHANG Gang CHEN Yi XU Yan

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ZHANG Gang CHEN Yi XU Yan. Clinical diagnosis and genetic mutation analysis of hereditary medullary thyroid carcinoma with CEA levels abnormal elevation as the initial clinical manifestation [J]. 中国医药导报, 2018, 15(14): 83-85,101.

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http://www.yiyaodaobao.com.cn/EN/ OR http://www.yiyaodaobao.com.cn/EN/Y2018/V15/I14/83

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