一名慢性淋巴细胞白血病患者存在 和 基因单等位基因缺失时的基因组不稳定。 （注：原文中“the and genes”部分缺失具体基因名称）
Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the and genes.
作者信息
Nava-Rodríguez María Paulina, Domínguez-Cruz Martín Daniel, Aguilar-López Lilia Beatriz, Borjas-Gutiérrez César, Magaña-Torres María Teresa, González-García Juan Ramón
机构信息
1Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud. Universidad de Guadalajara, Guadalajara, Jalisco Mexico.
2División de Genética, Centro de investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, CIBO-IMSS, Guadalajara, Jalisco Mexico.
出版信息
Mol Cytogenet. 2019 Jan 31;12:2. doi: 10.1186/s13039-019-0417-5. eCollection 2019.
BACKGROUND
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 and genes (minimal deleted region), but at times also including the 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.
CASE PRESENTATION
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 and 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 and genes, as well as other genes with potential for producing genomic instability due to haploinsufficiency.
背景
在慢性淋巴细胞白血病（CLL）患者中检测到的最常见细胞遗传学异常是染色体带13q14内存在缺失。缺失的大小可能各不相同，通常包含 和 基因（最小缺失区域），但有时也包括 基因。后一种较大类型的缺失与较差的预后相关。基因组不稳定性是大多数癌症的一个特征，在CLL患者中也有观察到，主要与端粒缩短有关。
病例报告
一名CLL患者的细胞遗传学和荧光原位杂交研究显示染色体易位t(12;13)(q15;q14)、一个单等位基因13q14缺失，该缺失包含 和 基因，以及表现为染色体断裂、端粒联合、双核细胞、核质桥和微核细胞的基因组不稳定性。总之，我们的CLL患者表现出基因组不稳定性，伴有涉及 和 基因以及其他因单倍体不足而可能产生基因组不稳定性的基因的约2.6兆碱基对的13q14缺失。
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