在MEN2中RET Y791F:一种变种被认为是非致病的,但缺乏无关紧要的确证据
Teresa Binter1, Martin Bruno Niederle1,2, Melisa Arikan1
1Division of Visceral Surgery, Department of General Surgery, Medical University of Vienna, Vienna, Austria.
Gland surgery
|July 17, 2025
概括
在MEN2综合征中,RET Y791F变异可能会导致髓性甲状腺癌,乳腺细胞瘤和甲状腺功能障碍症. 临床意义仍然不确定,需要对患有这种RET突变的患者进行持续监测.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 多发性内分泌新陈代谢2型 (MEN2) 是一种与重排在传染过程中的 (RET) 突变相关的遗传性疾病.
- 特定的RET基因型,如Y791F变体,可以导致侵袭性髓性甲状腺癌 (MTC),肌红细胞瘤 (PCC) 和原发性甲状腺功能乱 (PHPT).
- 关于Y791F变种的临床意义仍在争论中,关于其致病性和临床监测的必要性有不同的意见.
研究的目的:
- 评估MEN2综合征患者中RET Y791F变异的临床重要性和监测的必要性.
- 澄清与Y791F变种相关的潜在临床表现及其与零星内分泌疾病的区别.
主要方法:
- 对36名患有Y791F病原性变异的患者进行了回顾性分析.
- 收集了临床和生化随访数据,诊断是在潜在的色素查计划中进行的.
- 从突变诊断到最后一次随访的纵向监测,平均观察期为101.5个月.
主要成果:
- 在三个指数病例 (年龄在56-69岁) 中诊断出状甲状腺癌 (MTC).
- 在5个指数病例 (48-69岁) 中发现了新发性C细胞增生 (nCCH).
- 一名患者接受单边PCC (年龄68岁),另一名患者接受PHPT (年龄54岁).
结论:
- 在MEN2中Y791F变异的临床意义仍然不确定,尽管人们认为不重要.
- 这种变异的零星内分泌条件和MEN2相关表现之间存在模糊性.
- 对于Y791F变种患者的定期监测的作用需要进一步考虑.
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