Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation
Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation
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DOI：
10.1182/blood-2011-09-379339
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发表时间：
2012-04-05
期刊：
影响因子：
20.3
通讯作者：
Kreitman, Robert J.
中科院分区：
文献类型：
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作者：
Xi, Liqiang;Arons, Evgeny;Kreitman, Robert J.
最近，BRAF V600E突变在所有毛细胞白血病(HCL)中都有报道，但在其他外周B细胞肿瘤中未见报道。我们希望证实这些结果，并评估预后不良的典型HCL病例的BRAF状态，包括免疫表型定义的HCL变异体(HCLv)和表达IGHV4-34免疫球蛋白重排的HCL。分析53例经典型HCL(HCLc)和16例HCLv的BRAF，其中5例HCLc和8例HCLv表达IGHV4-34。BRAF在42例(79%)HCLc发生突变，11例(21%)发生野生型突变，16例(100%)发生突变。13株IGHV4-34(+)HCL均为野生型。在11例HCLc BRAF野生型病例中，IGHV基因使用情况包括5例IGHV4-34，5例其他，1例未知。我们的结果表明，HCLv和IGHV4-34(+)HCL的致病机制与HCLc不同，而其他HCLc中有相当一部分也是BRAF V600的野生型。(血。2012年；119(14)：3330-3332)
Recently, the BRAF V600E mutation was reported in all cases of hairy cell leukemia (HCL) but not in other peripheral B-cell neoplasms. We wished to confirm these results and assess BRAF status in well-characterized cases of HCL associated with poor prognosis, including the immunophenotypically defined HCL variant (HCLv) and HCL expressing the IGHV4-34 immunoglobulin rearrangement. Fifty-three classic HCL (HCLc) and 16 HCLv cases were analyzed for BRAF, including 5 HCLc and 8 HCLv expressing IGHV4-34. BRAF was mutated in 42 (79%) HCLc, but wild-type in 11 (21%) HCLc and 16 (100%) HCLv. All 13 IGHV4-34(+) HCLs were wild-type. IGHV gene usage in the 11 HCLc BRAF wild-type cases included 5 IGHV4-34, 5 other, and 1 unknown. Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600. (Blood. 2012; 119(14): 3330-3332)