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首页> 外文期刊>Molecular cytogenetics >Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes
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Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes

机译：慢性淋巴细胞白血病患者的基因组不稳定性，单位等位基因缺失DLEU和RB1基因

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The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, generally encompassing the DLEU1 and DLEU2 genes (minimal deleted region), but at times also including the RB1 gene. The latter, larger type of deletions are associated with worse prognosis.Genomic instability is a characteristic of most cancers and it has been observed in CLL patients mainly associated with telomere shortening. Cytogenetic and fluorescence in situ hybridization studies of a CLL patient showed a chromosomal translocation t(12;13)(q15;q14), a mono-allelic 13q14 deletion encompassing both the DLEU and RB1 genes, and genomic instability manifested as chromosomal breaks, telomeric associations, binucleated cells, nucleoplasmic bridges, and micronucleated cells.In conclusion, our CLL patient showed genomic instability in conjunction with a 13q14 deletion of approximately 2.6 megabase pair involving the DLEU and RB1 genes, as well as other genes with potential for producing genomic instability due to haploinsufficiency.
机译：在慢性淋巴细胞白血病（CLL）患者中检测到最常见的细胞遗传学异常是在染色体带13Q14内存在缺失。缺失可以是异质的大小，通常包括DLE1和DLE2基因（最小缺失区域），但有时也包括RB1基因。后者，较大类型的缺失与更差的预后有关。概念不稳定性是大多数癌症的特征，并且在CLL患者中观察到主要与端粒缩短相关的CLL患者。 CLL患者的细胞遗传学和荧光的杂交研究表明，染色体易位T（12; 13）（Q15; Q14），一种单位等位基因13Q14缺失，包括DLEU和RB1基因，以及表现为染色体破裂的基因组不稳定性结论，我们的CLL患者结束时，我们的CLL患者结合涉及DLEU和RB1基因的约2.6季度缺失，以及产生基因组不稳定性的其他基因，我们的CLL患者表现出基因组不稳定性。由于臭氧水平。

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