骨髓瘤患者的突变:一个癌症中心多基因下一代测序分析经验
Fei Fei1, Caitlin Caporale2, Lisa Chang1
1Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA.
在髓状瘤中,BRAF突变是罕见的,但对急性髓状白血病 (AML) 的预后有显著影响. 这些突变,特别是BRAF V600E,与单细胞分化和AML患者的不良结果有关.
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:
- 在髓状瘤中,BRAF突变并不常见.
- 现有数据表明,BRAF突变与治疗结果不佳相关.
研究的目的:
- 为了鉴定骨髓瘤中BRAF突变的特征.
- 调查BRAF突变患者的临床,病理和分子特征.
主要方法:
- 对患有骨髓瘤瘤的患者的回顾性审查.
- 使用了下一代测序 (NGS) 面板 (HopeSeq).
- 分析了2018年1月至2023年9月的数据.
主要成果:
- 在0.53%的骨髓瘤中发现了BRAF突变 (14/2632).
- BRAF V600E是最常见的突变 (28.6%).
- 患有BRAF突变的AML患者的预后不佳,通常具有单细胞分化 (6/7) 和并发的KMT2A重组 (3/7).
- 经常发生的共变包括TET2 (35.7%),ASXL1 (28.6%) 和JAK2 (28.6%).
结论:
- 虽然很少见,但BRAF突变在特定的急性髓性白血病亚型中至关重要.
- 包括BRAF突变在内的RAS路径变化与AML中的KMT2A重组有关.
- 需要在更大的队列中进一步验证.
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