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Characterization of clonal immunoglobulin heavy V-D-J gene rearrangements in Chinese patients with chronic lymphocytic leukemia: Clinical features and molecular profiles

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单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, Wuhan, Hubei, Peoples R China [2]Immunotherapy Res Ctr Hematol Dis Hubei Prov, Wuhan, Hubei, Peoples R China
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关键词: chronic lymphocytic leukemia B-cell receptor gene mutation prognostic factors next generation (deep) sequencing (NGS)

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IntroductionSeveral prognostic factors of chronic lymphocytic leukemia (CLL) have been identified, such as cytogenetic aberrations and recurrent gene mutations. B-cell receptor (BCR) signaling plays an important role in the tumorigenesis of CLL, and its clinical significance in predicting prognosis is also under study. MethodsTherefore, we assessed the already-known prognostic markers, immunoglobulin heavy chain (IGH) gene usage and the associations among these factors in 71 patients diagnosed with CLL in our center from October 2017 to March 2022. Sequencing of IGH gene rearrangements was performed using Sanger sequencing or IGH-based next-generation sequencing, and the results were further analyzed for distinct IGH/IGHD/IGHJ genes and the mutational status of the clonotypic IGHV (IGH variable) gene. ResultsIn summary, by analyzing the distribution of potential prognostic factors in CLL patients, we displayed a landscape of molecular profiles, confirmed the predictive value of recurrent genetic mutations and chromosome aberrations, and found that IGHJ3 was associated with favorable markers (mutated IGHV, trisomy 12), while IGHJ6 tended to correlate with unfavorable factors (unmutated IGHV, del17p). DiscussionThese results provided an indication for IGH gene sequencing in predicting the prognosis of CLL.

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出版当年[2022]版:
大类 | 3 区 医学
小类 | 3 区 肿瘤学
最新[2025]版:
大类 | 3 区 医学
小类 | 4 区 肿瘤学
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Q2 ONCOLOGY
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Q2 ONCOLOGY

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第一作者单位: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, Wuhan, Hubei, Peoples R China [2]Immunotherapy Res Ctr Hematol Dis Hubei Prov, Wuhan, Hubei, Peoples R China
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通讯机构: [1]Huazhong Univ Sci & Technol, Tongji Hosp, Tongji Med Coll, Dept Hematol, Wuhan, Hubei, Peoples R China [2]Immunotherapy Res Ctr Hematol Dis Hubei Prov, Wuhan, Hubei, Peoples R China
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