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首页> 外文期刊>Leukemia >Comprehensive genetic characterization of CLL: a study on 506 cases analysed with chromosome banding analysis, interphase FISH, IgVH status and immunophenotyping
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Comprehensive genetic characterization of CLL: a study on 506 cases analysed with chromosome banding analysis, interphase FISH, IgVH status and immunophenotyping

机译:CLL的全面遗传特征:通过染色体条带分析,相间FISH,IgVH状态和免疫表型分析的506例病例研究

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In CLL data from chromosome banding analysis (CBA) have been scarce due to the low proliferative activity of CLL cells in vitro. We improved the cultivation technique using an immunostimulatory CpG-oligonucleotide DSP30 and IL-2. A total of 506 CLL samples were analysed with CBA and interphase FISH using probes for the detection of trisomy 12, IgH rearrangements and deletions of 6q21, 11q22.3 (ATM), 13q14 (D13S25 and D13S319) and 17p13 (TP53). A total of 500 of 506 (98.8%) cases were successfully stimulated for metaphase generation and are subject to this study. Aberrations were detected in 415 of 500 (83.0%) cases by CBA and in 392 of 500 (78.4%) cases by FISH. CBA detected 832 abnormalities and FISH only 502. Therefore, CBA offers important information in addition to FISH. (1) CLL is characterized mainly by genomic imbalances and reciprocal translocations are rare. (2) A subgroup with complex aberrant karyotype (16.4%) is identified which is associated with an unmutated IgVH status and CD38 expression (P=0.034 and 0.02, respectively). (3) Additional abnormalities are detectable providing new biological insights into different CLL subclasses revealing a much more heterogeneous pattern of cytogenetic abnormalities as assumed so far based on FISH data only. Therefore, prospective clinical trials should evaluate the prognostic impact of newly available CBA data.
机译:在CLL中,由于CLL细胞在体外的增殖活性较低,因此缺乏来自染色体条带分析(CBA)的数据。我们使用免疫刺激性CpG-寡核苷酸DSP30和IL-2改进了培养技术。使用CBA和相间FISH使用探针检测三重体12,IgH重排以及6q21、11q22.3(ATM),13q14(D13S25和D13S319)和17p13(TP53)的缺失,对总共506个CLL样品进行了分析。总共成功刺激了506个病例中的500个(98.8%)发生中期生成,并接受了这项研究。 CBA在500个案例中的415个(83.0%)中检测出畸变,而FISH在500个案例中的392个(78.4%)中检测到了像差。 CBA检测到832个异常,而FISH仅检测到502个。因此,CBA除了提供FISH之外,还提供重要信息。 (1)CLL的主要特征是基因组不平衡,并且相互易位很少。 (2)鉴定出具有复杂异常核型(16.4%)的亚组,其与未突变的IgVH状态和CD38表达相关(分别为P = 0.034和0.02)。 (3)可以检测到其他异常,这提供了对不同CLL亚类的新生物学见解,揭示了迄今为止仅基于FISH数据假设的细胞遗传学异常的异构模式。因此,前瞻性临床试验应评估新获得的CBA数据对预后的影响。

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