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TP53变异基因频率和与治疗相关的设置独立地预测了与del(5q) 相关的骨髓发育综合征的存活率

Ayalew Tefferi¹, Farah Fleti¹, Onyee Chan¹

¹Mayo Clinic, Rochester/Jacksonville/Scottsdale, Minnesota/Florida/Arizona, USA.

British journal of haematology

|December 12, 2023

概括

对于具有del(5q的骨髓发育综合征,与治疗相关的起源和高TP53变异基因频率是关键的生存风险. 这些分子因素会影响患者的治疗决策.

科学领域:

血液学血液学血液学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

缺失5q (del(5q)) 的骨髓发育综合征 (MDS) 是克隆性造血干细胞疾病的特定亚型.
准确的预后标记对于指导MDS-del(5q) 患者的治疗策略至关重要,特别是关于白血病转变的风险.

研究的目的:

确定影响MDS-del(5q) 患者生存率和白血病转变的独立分子和临床风险因素.
为了评估TP53变体等位基因频率 (VAF) 和SF3B1突变在这个患者队列中的预后意义.

主要方法:

用现有分子数据对146名患有MDS-del (((5q) 的患者进行了回顾性分析.
采用多变量考克斯回归分析来确定整体存活率和无白血病存活率的独立风险因素.
使用p值和危险比率 (HR) 来评估统计学意义.

主要成果:

与治疗相关的MDS-del(5q) 设置 (p=0.02;HR 2.3) 和TP53 VAF ≥22% (p<0.01;HR 2.8) 被确定为生存的独立风险因素.
SF3B1突变不是生存的重要预测因素 (p=0.65).
与没有至少一个危险因素的患者 (11.7年) 相比,患有至少一个危险因素的患者的中位生存期 (4年) 显著较短.
无白血病生存率受到TP53VAF≥22% (p<0.01) 的显著影响.

结论:

TP53 VAF和与治疗相关的起源是MDS-del(5q) 中关键的预后因素.
这些发现强调了分子分析的重要性,特别是TP53VAF,用于风险分层.
鉴定到的风险因素可以为治疗决策提供信息,包括考虑异性干细胞移植.

关键词:

在SF3B1中.细胞遗传学细胞遗传学突变是一种突变.预后预后预后幸存率幸存率生存率

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