Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2
Distinct patterns of novel gene mutations in poor-prognostic stereotyped subsets of chronic lymphocytic leukemia: the case of SF3B1 and subset #2
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DOI：
10.1038/leu.2013.98
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发表时间：
2013-11-01
期刊：
影响因子：
11.4
通讯作者：
Rosenquist, R.
中科院分区：
文献类型：
--
作者：
Strefford, J. C.;Sutton, L-A;Rosenquist, R.
最近的研究揭示了慢性淋巴细胞白血病（CLL）中NOTCH 1、SF 3B 1和BIRC 3基因的复发性突变，特别是在侵袭性、化学难治性病例中。然而，目前尚不清楚它们的存在是否可能在携带定型B细胞受体的患者亚群中有所不同，并且还表现出不同的疾病。在这里，我们分析了NOTCH 1，SF 3B 1和BIRC 3的突变状态，在三个亚组特别是预后不良，即亚组#1，#2和#8，旨在探索遗传畸变和免疫信号之间的联系。SF 3B 1突变在亚群2（44%）中的发生率显著高于亚群1和亚群8（分别为4.6%和0%; P
Recent studies have revealed recurrent mutations of the NOTCH1, SF3B1 and BIRC3 genes in chronic lymphocytic leukemia (CLL), especially among aggressive, chemorefractory cases. Nevertheless, it is currently unknown whether their presence may differ in subsets of patients carrying stereotyped B-cell receptors and also exhibiting distinct prognoses. Here, we analyzed the mutation status of NOTCH1, SF3B1 and BIRC3 in three subsets with particularly poor prognosis, that is, subset # 1, # 2 and # 8, aiming to explore links between genetic aberrations and immune signaling. A remarkably higher frequency of SF3B1 mutations was revealed in subset # 2 (44%) versus subset # 1 and # 8 (4.6% and 0%, respectively; P