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基因变异和MRD改进了对成年人KMT2A重组B细胞前体ALL的风险评估:GRAALL研究

Rathana Kim^1,2, Hugo Bergugnat², Cédric Pastoret³

¹Hematology Laboratory, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.

|August 18, 2023

概括

患有KMT2A重组的B细胞急性淋巴细胞白血病的成年人面临高风险. 这项研究发现TP53/IKZF1变化和基于KMT2A的最小残留疾病 (MRD) 是更好的风险分层的关键预后标志物.

科学领域:

血液学血液学血液学
在瘤学瘤学.
遗传学是一个遗传学.

背景情况:

重组KMT2A (KMT2A-r) B细胞前体急性淋巴细胞白血病 (BCP-ALL) 是一种高危白血病.
对于使用现代疗法治疗成年KMT2A-r BCP-ALL的数据有限,治疗策略仍在讨论中.

研究的目的:

通过使用当代化疗来完善成人KMT2A-r BCP-ALL的预后.
调查转换和最小残留疾病 (MRD) 的预后影响.

主要方法:

分析了来自GRAALL试验的1091名费城负BCP-ALL成人患者 (141名KMT2A-r).
转换的分子分析 (TP53,IKZF1).
使用IG/TR基因重组和KMT2A基因组融合进行最小残留疾病 (MRD) 监测.

主要成果:

成人KMT2A-r BCP-ALL显示5年CIR为40.7%和OS为53.3%.
TP53和/或IKZF1的改变显著恶化了CIR (69.3%与36.2%) 和OS (28.1%与60.7%).
基于KMT2A的MRD是一个可靠的预测指标;早期响应者有很好的结果 (3年CIR7.1%,OS92.9%).

结论:

成人KMT2A-r BCP-ALL表现出显著的结果异质性.
基于TP53/IKZF1的改变和基于KMT2A的MRD是基于风险的治疗分层的关键生物标志物.

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