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髓系肿瘤中的突变:发生率和临床结局。

mutation in myeloid neoplasm: incidences and clinical outcomes.

机构信息

Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Department of Biostatistics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Leuk Lymphoma. 2024 Sep;65(9):1344-1349. doi: 10.1080/10428194.2024.2347539. Epub 2024 May 2.

Abstract

The presence of mutation in hematological malignancies, excluding Hairy cell leukemia, and its significance as a driver mutation in myeloid neoplasms (MNs) remains largely understudied. This research aims to evaluate patient characteristics and outcomes of -mutated MNs. Among a cohort of 6667 patients, 48 (0.7%) had -mutated MNs. Notably, three patients exhibited sole mutation, providing evidence supporting the hypothesis of 's role as a driver mutation in MNs. In acute myeloid leukemia, the majority of patients had secondary acute myeloid leukemia, accompanied by poor-risk cytogenic and RAS pathway mutations. Although the acquisition of mutation during disease progression did not correlate with unfavorable outcomes, its clearance through chemotherapy or stem cell transplant exhibited favorable outcomes (median overall survival of 34.8 months versus 10.4 months,  = 0.047). Furthermore, G469A was the most frequently observed mutation, differing from solid tumors and hairy cell leukemia, where V600E mutations were predominant.

摘要

除毛细胞白血病外,血液系统恶性肿瘤中 突变的存在及其作为骨髓增生性肿瘤(MNs)驱动突变的意义在很大程度上仍未得到充分研究。本研究旨在评估 -突变 MNs 患者的特征和结局。在 6667 例患者队列中,有 48 例(0.7%)存在 -突变 MNs。值得注意的是,有 3 例患者仅存在 突变,这为 突变作为 MNs 驱动突变的假说提供了证据支持。在急性髓系白血病中,大多数患者患有继发性急性髓系白血病,同时伴有不良风险细胞遗传学和 RAS 通路突变。尽管疾病进展过程中获得 突变与不良结局无关,但通过化疗或干细胞移植清除该突变则具有良好的结局(中位总生存期分别为 34.8 个月和 10.4 个月,  = 0.047)。此外,G469A 是最常观察到的 突变,与实体瘤和毛细胞白血病不同,后者以 V600E 突变为主。

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