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

doi:10.12114/j.issn.1007-9572.2022.0464

Chinese General Practice ›› 2023, Vol. 26 ›› Issue (14): 1794-1798.DOI: 10.12114/j.issn.1007-9572.2022.0464

• Study of Typical Cases • Previous Articles

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

1. Department of Endocrinology, the First Affiliated Hospital of Nanchang University, Nanchang 330006, China
2. Department of Pathology, Jingdezhen First People's Hospitial, Jingdezhen 333000, China
3. Department of Oncology, the First Affiliated Hospital of Nanchang University, Nanchang 330006, China

Received:2022-06-20 Revised:2022-07-22 Published:2023-05-15 Online:2022-08-11
Contact: JIANG Yanxia

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

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

通讯作者: 江妍霞
作者简介:
作者贡献：邓煜璇负责资料收集与整理、论文构思和撰写；何立负责病例采集和论文修订；宋志旺负责肿瘤诊断和免疫组化；江妍霞负责论文指导和审校，对论文整体负责。
基金资助:
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)

Abstract

Abstract:

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.

Key words: Multiple endocrine neoplasia type 2A, RET gene, Pheochromocytoma, Medullothyoid carcinoma

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。

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

DENG Yuxuan,HE Li,SONG Zhiwang, et al. RET Proto-oncogene C634Y Mutation-associated Multiple Endocrine Adenomatosis Type 2A: a Case Report and Literature Review[J]. Chinese General Practice, 2023, 26(14): 1794-1798. DOI: 10.12114/j.issn.1007-9572.2022.0464.
邓煜璇,何立,宋志旺等. 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[J]. 中国全科医学, 2023, 26(14): 1794-1798. DOI: 10.12114/j.issn.1007-9572.2022.0464.

Figures/Tables 4

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

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

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