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首页> 外文期刊>British Journal of Haematology >Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome
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Different impact of NOTCH1 and SF3B1 mutations on the risk of chronic lymphocytic leukemia transformation to Richter syndrome

机译:NOTCH1和SF3B1突变对慢性淋巴细胞白血病转化为Richter综合征的风险的不同影响

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摘要

Richter syndrome (RS) represents the development of an aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL), in the context of chronic lymphocvtic leukaemia (CLL). At least two types of RS exist: (i) transformation of CLL into a clonally related DLBCL, that accounts for -80% of cases; and (ii) development of a DLBCL unrelated to the CLL clone. Clonally related RS and clonally unrelated RS are distinct disorders (Rossi et al, 2011a). Clinically, transformation into a clonally related RS is frequently lethal with an expected survival of a few months, while CLL patients developing a clonally unrelated RS display a survival probability in the range of de novo DLBCL (Rossi et al, 2011a). Biologically, clonally related RS frequently acquire genetic lesions of TP53, MYC and NOTCH1, which are otherwise absent or exceptional in clonally unrelated RS (Rossi et al, 2011a).
机译:在慢性淋巴细胞白血病(CLL)的背景下,Richter综合征(RS)代表了侵袭性淋巴瘤的发展,最常见的是弥漫性大B细胞淋巴瘤(DLBCL)。至少存在两种​​类型的RS:(i)将CLL转换为与克隆相关的DLBCL,占病例的-80%; (ii)开发与CLL克隆无关的DLBCL。克隆相关的RS和克隆无关的RS是截然不同的疾病(Rossi等,2011a)。在临床上,转变为与克隆相关的RS通常会致命,预期生存期为数月,而发展成与克隆无关的RS的CLL患者的存活概率在从头DLBCL范围内(Rossi等,2011a)。从生物学上讲,与克隆相关的RS经常获得TP53,MYC和NOTCH1的遗传损伤,而在与克隆无关的RS中则不存在或例外(Rossi等,2011a)。

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