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亚马逊机械机械 (ATM) 生殖系病原性变异影响了患有形性 - 形性和血液性恶性瘤的儿童的结局

Sarah Elitzur¹, Ruth Shiloh^1,2, Jan L C Loeffen³

¹Department of Pediatric Hematology and Oncology, Schneider Children's Medical Center and Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

|June 25, 2024

概括

患有阿塔克西亚-长长生病 (A-T) 和血液性恶性瘤的儿童的存活率很低. ATM激酶活性水平显著影响结果,这表明基于遗传特征的定制治疗策略对于改善无事件生存和减少与治疗相关的死亡率至关重要.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
儿科儿科儿科

背景情况:

缺血症-长尾症 (A-T) 是一种遗传性疾病,由ATM基因中的致病变体 (PVs) 引起.
A-T使儿童易患血液性恶性瘤,包括淋巴瘤和急性淋巴细胞白血病/淋巴瘤.
对于患有血液性恶性瘤的儿科A-T患者,目前的治疗策略和结果需要进一步调查.

研究的目的:

调查患有阿塔克西亚-太阳系外症和血液性恶性瘤的儿科患者的特征和结果.
以数据为基础,根据这些患者的遗传资料量身定制的治疗建议.
评估ATM激酶活性对生存率和与治疗相关的死亡率的影响.

主要方法:

一项跨国观察性研究,涉及来自25个国家的202名年龄≤25岁的AT和血液恶性瘤患者.
血液性恶性瘤的分类,包括成熟的B细胞淋巴瘤,急性淋巴细胞白血病/淋巴瘤和霍奇金淋巴瘤.
将生殖线ATM PV分类为零或低形态,并根据缺席或残留的ATM激酶活性对患者进行分类.

主要成果:

四年总生存率为50.8%,无事件生存率为47.9%.
与治疗相关的死亡率 (TRM) 是治疗失败的主要原因,四年累计发病率为25.9%.
与残余活性患者相比,缺少ATM激酶活性的患者EFS (39.4%) 和TRM (37.6%) 显著恶化,TRM更高 (EFS 78.7%,TRM 4.0%).

结论:

在过去的40年里,A-T和血液性恶性瘤的儿科患者的生存率没有显著改善.
缺少ATM激酶活性与EFS降低和TRM增加独立相关.
缺少ATM激酶活性的患者的降级疗法和剩余ATM激酶活性患者的近标准疗法可能会改善结果.

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