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在生殖线遗传测试中发现的TP53马赛克变体的临床管理

Abigail Ward¹, Dana Farengo-Clark², Danielle B McKenna²

¹Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, USA.

Cancer genetics

|April 27, 2024

概括

低变异基因频率TP53致病变体 (PVs) 可能表明马赛克或克隆性血液形成. 区分这些情况对于Li Fraumeni综合征 (LFS) 患者的治疗至关重要.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
临床诊断临床诊断临床诊断

背景情况:

生殖系异构型TP53致病变体 (PVs) 导致李弗劳梅尼综合征 (LFS).
在TP53PV中,低变异基因频率 (VAF) 可能暗示后异位性马赛克 (PZM) 或克隆性血液形成 (CH).
目前缺乏对低VAF TP53光伏的处理和管理的指导方针.

研究的目的:

分析低VAF TP53 PVs的病因学.
在TP53 PVs患者中区分PZM和CH.
为 TP53 PVs. 的个体提供临床管理策略的信息.

主要方法:

从一个学术癌症遗传学计划中对125个具有TP53PV的探针进行了回顾性分析.
对具有VAF<30%或被指定为"马赛克"的TP53PVs的评估.
在诊断评估中包括临床表型和辅助组织测试.

主要成果:

17% (21/125) 的受试者有TP53 PVs,VAF<30%或马赛克指定.
9名患者 (43%) 被诊断为PZM,与LFS表型一致.
12名患者 (57%) 被诊断为疑似CH (pCH),具有不同的临床和测试配置文件.
在所有九个评估的案例中,对后代的测试结果都是负面的.

结论:

确定低VAF TP53 PVs的原因需要辅助组织测试和临床评估.
区分PZM和CH对于适当的患者护理和随访至关重要.
这项研究强调了一种综合方法管理低VAF TP53变异的个体的重要性.

关键词:

不正常的克隆扩张.克隆性血液形成 (clonal hematopoiesis) 是一种血液形成的过程.李弗劳梅尼综合症李弗劳梅尼综合症后西哥特式的马赛克主义.这就是TP53的特点.

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