RET基因C634Y突变致多发性内分泌腺瘤病2A型一例报道并文献复习  

RET Proto-oncogene C634Y Mutation-associated Multiple Endocrine Adenomatosis Type 2A:a Case Report and Literature Review

作　　者：邓煜璇 何立 宋志旺 江妍霞 DENG Yuxuan;HE Li;SONG Zhiwang;JIANG Yanxia(Department of Endocrinology,the First Affiliated Hospital of Nanchang University,Nanchang 330006,China;Department of Pathology,Jingdezhen First People's Hospitial,Jingdezhen 333000,China;Department of Oncology,the First Affiliated Hospital of Nanchang University,Nanchang 330006,China)

机构地区：[1]南昌大学第一附属医院内分泌科,江西省南昌市330006 [2]江西省景德镇市第一人民医院病理科,333000 [3]南昌大学第一附属医院肿瘤科,江西省南昌市330006

出　　处：《中国全科医学》2023年第14期1794-1798,共5页Chinese General Practice

基　　金：国家自然科学基金资助项目(82060043);江西省青年科学基金资助项目(20192BAB215017);江西省卫生健康委科技计划(20203118)。

摘　　要：多发性内分泌腺瘤病2A型(MEN2A)是多发性内分泌腺瘤病2型(MEN2)的一种,临床通常表现为甲状腺髓样癌(MTC)、嗜铬细胞瘤(PHEO)及甲状旁腺功能亢进。研究表明MEN2A由10号染色体RET基因突变导致。本文报道了一例由RET基因C634Y突变导致的MEN2A患者,并对其家族成员进行了基因检测,绘制系谱图。基因检测结果显示患者同胞及同胞的子女存在C634Y突变。通过本病例诊疗结合文献复习,提示临床当患者出现内分泌腺体肿瘤时,需引起警惕,应对患者其他内分泌腺体进行进一步检查,并进行RET基因检测,以防出现误诊、漏诊,实现早期治疗,提高治疗效果,改善患者预后。MEN2A患者亲属也应进行RET基因检测。Multiple endocrine adenomatosis type 2A(MEN2A)is a subtype of multiple endocrine adenomatosis type 2,which is clinically characterized by medulloid thyroid carcinoma(MTC),pheochromocytoma(PHEO),and hyperparathyroidism,and has been reported to be caused by mutations in the RET proto-oncogene on chromosome 10. We reported a case of MEN2A caused by RET proto-oncogene C634Y mutation,and conducted a pedigree analysis of the patient.Genetic test results showed C634Y mutation in the patient’s siblings and their offspring. The diagnosis and treatment of this case in combination with a review of the relevant literature suggest that endocrine gland tests and RET proto-oncogene test should be performed for a patient diagnosed with endocrine adenomatosis to reduce the possibility of misdiagnosis and missed diagnosis,and to achieve early treatment,improve the effect of treatment and the prognosis of patients. In addition,the first-and second-degree relatives of the patient should also be tested for the mutation of the RET proto-oncogene.

关 键 词：多发性内分泌腺瘤病2A型 RET基因 嗜铬细胞瘤 甲状腺髓样癌 

分 类 号：R593.1[医药卫生—内科学]