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| 以RET基因C634R突变致多发性内分泌腺瘤病2A型一例 |
| A case of multiple endocrine neoplasia type 2A caused by the C634R mutation in the RET gene |
| 投稿时间：2025-06-30 修订日期：2026-04-06 |
| DOI： |
| 中文关键词: 多发性内分泌腺瘤病2A型 甲状腺髓样癌 RET基因 嗜铬细胞瘤 |
| 英文关键词: Multiple Endocrine Neoplasia Type 2A Medullary Thyroid Carcinoma RET Gene Pheochromocytoma |
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| 中文摘要: |
| 多发性内分泌腺瘤病2A型（MEN2A）是一种罕见的遗传病，与 RET 基因突变密切相关，表型异质性高，主要表现有甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进症，但也可能合并罕见的非内分泌表现。本文报道香港大学深圳医院收治的1例青年女性患者，2年前行甲状腺髓样癌手术，家族中有甲状腺髓样癌和嗜铬细胞瘤病史，此次因阵发性头痛及肾上腺占位入院，经检验明确为嗜铬细胞瘤，完善RET基因检测确诊MEN2A，并行肾上腺切切除手术。本文旨在加强临床医师对该疾病的认识，强调家族病史和RET基因检测的重要性，避免漏诊及延迟诊断。 |
| 英文摘要: |
| Multiple Endocrine Neoplasia Type 2A (MEN2A) is a rare genetic disorder closely associated with mutations in the RET gene, characterized by high phenotypic heterogeneity. The main manifestations include medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism, but it may also present with rare non-endocrine features. This article reports a case of a young female patient admitted to the Shenzhen Hospital of Hong Kong University, who underwent surgery for medullary thyroid carcinoma two years ago, with a family history of medullary thyroid carcinoma and pheochromocytoma. She was hospitalized this time due to paroxysmal headaches and an adrenal mass, and tests confirmed pheochromocytoma. Further RET gene testing diagnosed MEN2A, and she underwent adrenalectomy. This article aims to enhance clinical physicians' awareness of this disease, emphasizing the importance of family history and RET gene testing to avoid missed and delayed diagnoses. |
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