Abstract：
Chronic lymphocytic leukaemia/small lymphocytic lymphoma (CLL/SLL) is a heterogeneous disease in Western and Chinese populations, and it is still not well characterized in Chinese patients. Based on a large cohort of newly diagnosed CLL/SLL patients from China, we investigated immunophenotypes, genetic abnormalities, and their correlations. Eighty-four percent of the CLL/SLL patients showed typical immunophenotypes with scores of 4 or 5 points in the Royal Marsden Hospital (RMH) scoring system (classic group), and the remaining 16% of patients were atypical with scores lower than 4 points (atypical group). Trisomy 12 and variants of TP53, NOTCH1, SF3B1, ATM, and MYD88 were the most recurrent genetic aberrations. Additionally, unsupervised genomic analysis based on molecular genetics revealed distinctive characteristics of MYD88 variants in CLL/SLL. By overlapping different correlation grouping analysis from genetics to immunophenotypes, the results showed MYD88 variants to be highly related to atypical CLL/SLL immunophenotypes. Furthermore, compared with mantle cell lymphoma (MCL), the genetic landscape showed potential value in clinical differential diagnosis of atypical CLL/SLL and MCL patients. These results reveal immunophenotypic and genetic features, and may provide insights into the tumorigenesis and clinical management of Chinese CLL/SLL patients.
摘要：
慢性淋巴细胞白血病/小淋巴细胞淋巴瘤(CLL/SLL)是西方和中国人群的异质性疾病,在中国患者中仍然没有很好的表现。基于大量来自中国的新诊断CLL/SLL患者，我们调查了免疫表型，遗传异常，以及它们的相关性。84％的CLL/SLL患者在皇家马斯登医院（RMH）评分系统（经典组）中表现出4或5分的典型免疫表型，其余16％的患者为不典型，评分低于4分（不典型组）。三体12和TP53，NOTCH1，SF3B1，ATM的变体，MYD88是最常见的遗传畸变。此外,基于分子遗传学的无监督基因组分析揭示了CLL/SLL中MYD88变异的独特特征。通过重叠从遗传学到免疫表型的不同相关分组分析，结果显示MYD88变异与非典型CLL/SLL免疫表型高度相关.此外，与套细胞淋巴瘤（MCL）相比，遗传景观在非典型CLL/SLL和MCL患者的临床鉴别诊断中显示出潜在价值。这些结果揭示了免疫表型和遗传特征，并可能为中国CLL/SLL患者的肿瘤发生和临床治疗提供见解。
