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Independent coexistence of clones with 13q14 deletion at reciprocal translocation breakpoint and 13q14 interstitial deletion in chronic lymphocytic leukemia

机译:慢性淋巴细胞白血病中相互易位断点处具有13q14缺失和13q14间质缺失的克隆的独立共存

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摘要

13ql4 deletion is the most frequent chromosomal aberration in chronic lymphocytic leukemia (CLL), found by interphase fluorescence in situ hybridization (FISH) in more than 50% of cases of CLL [1]. As a sole aberration it is associated with a favorable prognosis; however, it (13ql4 deletion) does not improve the impaired prognosis of complex karyotype [1,2]. A minimal deleted region (MDR) of approximately 900 kbp in size was established by genomic profiling [3], containing several genes including DLEU7 and miR15a and miR16-1, recognized as tumor suppressor genes [4-6]. Deletion larger than the MDR was repeatedly associated with an increased risk of disease progression [3,7].
机译:13ql4缺失是慢性淋巴细胞性白血病(CLL)中最常见的染色体畸变,在50%以上的CLL病例中通过相间荧光原位杂交(FISH)发现[13]。作为唯一的畸变,它与良好的预后相关。然而,它(13ql4缺失)并不能改善复杂核型的预后[1,2]。通过基因组分析[3]建立了一个大小约为900 kbp的最小缺失区(MDR),其中包含被认为是抑癌基因的几种基因,包括DLEU7和miR15a和miR16-1,[4-6]。大于MDR的缺失与疾病进展的风险反复相关[3,7]。

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