一个家族的MEN2表型具有生殖线异合的罕见RET K666N变体
A La Greca1, D Dawes2, M Albuja-Cruz3
1Division of Endocrinology, Metabolism and Diabetes, Department of Medicine, University of Colorado, Aurora, Colorado, USA.
Endocrinology, diabetes & metabolism case reports
|September 4, 2024
概括
在多发性内分泌新陈代谢2型 (MEN2) 中,罕见的RET K666N变异可能会呈现出具有攻击性的肌肉细胞瘤,髓性甲状腺癌和原发性甲状腺功能过高症. 这个案例突出显示了变种.
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:
- 多发性内分泌瘤2型 (MEN2) 是一种与RET原瘤基因变异相关的遗传性癌症综合征.
- 存在MEN2A和MEN2B亚型,它们存在甲状腺髓癌 (MTC),色细胞瘤 (PHEO) 和原发性甲状腺功能障碍症 (PHPT) 的不同风险.
- 该RET K666N变种很罕见,对其致病性和临床表现的数据有限,查和治疗尚不清楚.
研究的目的:
- 报告一个家族具有罕见的异质合生生殖系RET K666N变种.
- 描述与RET K666N变种相关的PHEO,MTC和PHPT的试验对象的临床表现.
- 为了解RET K666N变异在MEN2.2中的透率和临床谱而做出贡献.
主要方法:
- 一个家庭的病例报告带有生殖线RET K666N变异.
- 基因检测用于识别RET K666N变种.
- 试验对象的临床评估呈现出心脏性休克,多器官衰竭,PHEO,MTC和PHPT.
主要成果:
- 试验对象被诊断为PHEO,MTC和PHPT,携带了异合体生殖系RET K666N变种.
- 试验对象的呈现有侵略性疾病与此前报告的这种变异家族的惰性MTC形成鲜明对比.
- 这一案例表明,RET K666N可能是MEN2的低透性变体,但可以呈现出严重的表现.
结论:
- 虽然RET K666N变种罕见,并且经常与惰的MTC相关,但可以呈现出积极的PHEO,MTC和PHPT.
- 美国甲状腺协会尚未对RET K666N变种进行分层,需要进一步研究.
- 这一案例强调了全面遗传评估的重要性,并考虑在MEN2中为罕见的RET变异提供更广泛的临床谱.
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