错误的多发性内分泌瘤2:英国甲状腺协会的指导方针是否准确地预测了多发性内分泌瘤2的高风险群体的甲状腺癌风险? 一个案例系列
Arya Anthony Kamyab1, Alex Weller1, Kate Hulley1
1St George's University Hospitals NHS Foundation Trust, London, UK.
Ultrasound (Leeds, England)
|November 18, 2024
概括
英国甲状腺协会的U级测试在患有多发性内分泌瘤的患者中检测甲状腺髓癌时不有效. 对RET突变的基因测试在这种高风险人群中更可靠地检测癌症.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 骨髓甲状腺癌 (MTC) 是一种罕见的亚型,通常是遗传的,并且与多种内分泌瘤2 (MEN2) 综合征中的RET原基因突变有关.
- 目前英国甲状腺协会 (BTA) 的U级指南显示,对常见甲状腺癌的敏感性很高,但对于更罕见的类型 (如MTC) 可能表现不佳.
- 对RET突变的基因测试越来越容易用于识别MTC高风险个体.
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