Adhikari Bindira, Niraula Biraj, Lamichhane Samit, Sapkota Aashish
Chitwan Medical College, Chitwan, Nepal.
Ann Med Surg (Lond). 2025 Jan 7;87(2):981-984. doi: 10.1097/MS9.0000000000002923. eCollection 2025 Feb.
Multiple endocrine neoplasia type 2A (MEN2A) is a rare hereditary cancer syndrome marked by medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism. The RET proto-oncogene mutation, particularly the C634R variant, significantly increases the risk of persistent or recurrent disease. This case underscores the importance of genetic analysis and comprehensive follow-up in managing MEN2A.
We report a 36-year-old pregnant female with MEN2A, diagnosed with the RET C634R mutation. Ten years earlier, she underwent a total thyroidectomy for MTC, followed by an adrenalectomy for bilateral pheochromocytoma. Despite these interventions, her calcitonin levels never normalized, and recent imaging revealed somatostatin receptor-expressing lesions in the left paratracheal region. Genetic testing confirmed the RET C634R mutation, also found in her 7-year-old daughter, indicating familial transmission.
The RET C634R mutation is associated with a high risk of MTC recurrence and poor prognosis, emphasizing the need for vigilant monitoring. This case highlights the challenges in managing MEN2A, particularly in the presence of persistent lymph node involvement. It also stresses the importance of genetic counseling for at-risk family members.
This case emphasizes the critical role of genetic testing, continuous monitoring, and a multidisciplinary approach in MEN2A management. The identification of the RET C634R mutation in both the patient and her daughter highlights the need for early intervention and personalized treatment strategies to improve outcomes.
2A型多发性内分泌腺瘤病（MEN2A）是一种罕见的遗传性癌症综合征，其特征为甲状腺髓样癌（MTC）、嗜铬细胞瘤和原发性甲状旁腺功能亢进。RET原癌基因突变，尤其是C634R变异，显著增加了疾病持续或复发的风险。本病例强调了基因分析和全面随访在MEN2A管理中的重要性。
我们报告了一名36岁的患有MEN2A的孕妇，诊断为RET C634R突变。十年前，她因MTC接受了全甲状腺切除术，随后因双侧嗜铬细胞瘤接受了肾上腺切除术。尽管进行了这些干预，她的降钙素水平从未恢复正常，最近的影像学检查显示左气管旁区域有表达生长抑素受体的病变。基因检测证实了RET C634R突变，在她7岁的女儿中也发现了该突变，表明存在家族性遗传。
RET C634R突变与MTC复发的高风险和不良预后相关，强调了进行密切监测的必要性。本病例突出了MEN2A管理中的挑战，特别是在存在持续性淋巴结受累的情况下。它还强调了对有风险的家庭成员进行遗传咨询的重要性。
本病例强调了基因检测、持续监测和多学科方法在MEN2A管理中的关键作用。在患者及其女儿中均发现RET C634R突变，这突出了早期干预和个性化治疗策略以改善预后的必要性。
