在家族原发性甲状腺功能障碍症中针对MEN1,RET,CDC73,CDKNIB基因的下一代测序:印度北部的一项研究
Ajaz Qadir1, Raiz A Misgar1, Ankit Chhabra1
1Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India.
Indian journal of endocrinology and metabolism
|January 7, 2026
概括
基因检测显示,28.2%的印度患者怀疑患有家族原发性甲状腺功能障碍症 (FPHPT). 鉴定了MEN1和CDC73基因突变,强调了对高风险PHPT个体进行遗传查的重要性.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
背景情况:
- 在印度,家族原发性甲状腺功能障碍症 (FPHPT) 的遗传特征尚不清楚.
- 初级甲状腺功能障碍症 (PHPT) 的管理需要了解其遗传基础,特别是在家族病例中.
研究的目的:
- 确定印度患者中针对性基因突变的流行率,这些患者对FPHPT的怀疑很高.
- 调查与 MEN1 和 CDC73 基因中发现的突变相关的临床特征.
主要方法:
- 一项涉及103名PHPT患者的前性横截面研究.
- 下一代测序 (NGS) 使用定制基因组 (MEN1,RET,CDKN1B,CDC73) 在39名高风险FPHPT患者身上.
- 高风险标准包括早期发病 (<35岁),家族病史,多腺体疾病,瘤,囊性副甲状腺瘤,副甲状腺癌和疑似MEN综合征.
主要成果:
- 在39名高风险患者中的11名 (28.2%) 发现了生殖系变异.
- 在7名患者 (17.9%) 中发现了MEN1突变,与微芽细胞瘤,多腺体疾病,复发性/持续性PHPT和胃神经内分泌瘤有关.
- 在4名患者 (10.2%) 中发现了CDC73突变,与家族性PHPT,超甲状腺症下瘤综合征,囊和子宫瘤有关. 与年龄相关的突变,血清,ALP和骨参与.
结论:
- 针对性基因测试对于管理具有高风险特征的PHPT患者至关重要,即使在资源有限的环境中也是如此.
- 该研究确定了印度FPHPT群体中普遍存在的特定MEN1和CDC73突变,有助于诊断和管理.
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