一项初诊中国慢性淋巴细胞白血病患者的IGHV基因使用特征的单中心回顾性研究——IGHV4-39的高频使用和差预后
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南京医科大学第一附属医院,江苏省人民医院

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国家自然科学基金(81700193,82170186);中国博士后自然科学基金(2021M691336),江苏省博士后自然科学基金(2021K083A)


Title: A single-center retrospective analysis of IGHV gene usage in patients with treatment-naive chronic lymphocytic leukemia: IGHV4-39 over-usage and its correlation with poor prognosis
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    摘要:

    慢性淋巴细胞白血病(CLL)是西方最常见的成人白血病,但在中国的发病率却显著减低。这种差异性与人种间不同的遗传学特征相关。免疫球蛋白重链可变区基因(IGHV)是B细胞受体的重要组成部分,其突变状态与CLL的预后显著相关。本研究中,我们回顾性分析了291例于南京医科大学第一附属医院血液科就诊的初诊CLL患者的IGHV基因特征,发现中国CLL患者在IGHV基因片段的使用上与西方CLL患者显著不同:中国CLL患者IGHV3-7、IGHV4-39使用率更高,IGHV1-69使用率更低。在使用率更高的2个基因片段中,IGHV4-39与较短的至首次治疗时间相关,并与晚期疾病、细胞遗传学12号染色体三体、NOTCH1基因突变和粘附因子CD49d高表达等差预后因素相关。本研究结果提示,IGHV基因使用对判断CLL预后具有重要价值,中国CLL患者中IGHV4-39的高频使用可能导致差预后,值得进一步研究和关注。

    Abstract:

    Chronic lymphocytic leukemia (CLL) is the most common type of adult leukemia in western countries, but its incidence in China is relatively low. The discordance in the incidence has been attributed to different genetic background among ethics groups. Immunoglobulin heavy chain variable region gene (IGHV), as part of encoding genes for B cell receptor, represents one of the most important prognostic factors for CLL patients. In this study, we retrospectively analyzed the IGHV gene features of 291 newly diagnosed CLL patients from our institution, and found that the usage of IGHV gene fragments in Chinese CLL patients was significantly different from that of western CLL patients: Chinese CLL patients had higher frequency of IGHV3-7 and IGHV4-39 usage and lower frequency of IGHV1-69 usage. Among the two gene fragments with higher usage rate, IGHV4-39 was associated with a shorter time to first treatment, and was also associated with several unfavorable prognostic markers including advanced stage of disease, trisomy 12, NOTCH1 mutation and CD49d expression. These results highlight IGHV gene usage feature as an important prognostic marker for CLL, and suggest the over-usage of IGHV4-39 in Chinese CLL patients may related to poor prognosis, which warrant further investigation.

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  • 收稿日期:2021-11-21
  • 最后修改日期:2022-01-01
  • 录用日期:2022-03-11
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