骨髓性肿瘤中的 BRAF 基因突变:发病率和临床结果。

IF 2.2 4区 医学 Q3 HEMATOLOGY
Leukemia & Lymphoma Pub Date : 2024-09-01 Epub Date: 2024-05-02 DOI:10.1080/10428194.2024.2347539
Tareq Abuasab, Shehab Mohamed, Naveen Pemmaraju, Tapan M Kadia, Naval Daver, Courtney D DiNardo, Farhad Ravandi, Wei Qiao, Guillermo Montalban-Bravo, Gautam Borthakur
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引用次数: 0

摘要

除毛细胞白血病外,BRAF突变在血液恶性肿瘤中的存在及其作为髓系肿瘤(MNs)驱动突变的意义在很大程度上仍未得到充分研究。这项研究旨在评估BRAF突变MNs患者的特征和预后。在一组 6667 例患者中,有 48 例(0.7%)患有 BRAF 突变的 MNs。值得注意的是,有三名患者表现出唯一的 BRAF 突变,这为 BRAF 在 MNs 中扮演驱动突变角色的假设提供了证据支持。在急性髓性白血病中,大多数患者为继发性急性髓性白血病,伴有低风险细胞基因突变和 RAS 通路突变。虽然在疾病进展过程中获得的BRAF突变与不良预后无关,但通过化疗或干细胞移植清除BRAF突变后,预后良好(中位总生存期为34.8个月对10.4个月,P = 0.047)。此外,G469A是最常见的BRAF突变,这与实体瘤和毛细胞白血病不同,后者以V600E突变为主。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
BRAF mutation in myeloid neoplasm: incidences and clinical outcomes.

The presence of BRAF 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 BRAF-mutated MNs. Among a cohort of 6667 patients, 48 (0.7%) had BRAF-mutated MNs. Notably, three patients exhibited sole BRAF mutation, providing evidence supporting the hypothesis of BRAF'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 BRAF 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, p = 0.047). Furthermore, G469A was the most frequently observed BRAF mutation, differing from solid tumors and hairy cell leukemia, where V600E mutations were predominant.

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来源期刊
Leukemia & Lymphoma
Leukemia & Lymphoma 医学-血液学
CiteScore
4.10
自引率
3.80%
发文量
384
审稿时长
1.8 months
期刊介绍: Leukemia & Lymphoma in its fourth decade continues to provide an international forum for publication of high quality clinical, translational, and basic science research, and original observations relating to all aspects of hematological malignancies. The scope ranges from clinical and clinico-pathological investigations to fundamental research in disease biology, mechanisms of action of novel agents, development of combination chemotherapy, pharmacology and pharmacogenomics as well as ethics and epidemiology. Submissions of unique clinical observations or confirmatory studies are considered and published as Letters to the Editor
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