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

Clinical diagnosis and genetic mutation analysis of hereditary medullary thyroid carcinoma with CEA levels abnormal elevation as the initial clinical manifestation

临床工作中,患者因血清癌胚抗原(CEA)水平异常升高首次就诊时,在常规检查未见肿瘤征象时,容易漏诊甲状腺髓样癌。PET/CT(正电子发射断层显像/计算机体层扫描)可以为早期定位病灶提供线索。陆军军医大学大坪医院&野战外科研究所收治1例因血清CEA水平异常升高首次就诊的患者,首先对其胃肠道肿瘤行系统检查未见肿瘤征象,进一步行PET/CT检查发现甲状腺占位病变。术后病理证实为甲状腺髓样癌。进一步行RET原癌基因检测提示:p.Cys634Tyr杂合子突变,家系内两名成员携带该基因突变。同时检查发现合并甲状旁腺增生和肾上腺增生。家系患者临床表现可能符合家族遗传性甲状腺髓样癌或多发性内分泌肿瘤2A型。

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）.