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首页> 外文期刊>Case Reports in Genetics >Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature
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Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature

机译：骨髓增生异常综合症和急性髓性白血病中1q的跳跃易位：三例报道并文献复习

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摘要

Jumping translocations of 1q refer to the break-off of chromosome 1q as a donor fusing to two or more recipient chromosomes. We detected jumping translocations of 1q in three patients with initial diagnosis of myelodysplastic syndrome (MDS) and later progression to acute myeloid leukemia (AML). Review of literature found jumping translocations of 1q in 30 reported cases of MDS and AML. The cytogenetic findings from these 33 cases showed that seven cases had a stemline clone and 26 cases had de novo jumping translocations of 1q in which 5% of cell lineages had additional structural rearrangements. In 75% of cases, the 1q donor jumped to the short arm of recipient acrocentric chromosomes. Approximately 82% of the fusions occurred in the telomeric regions of short and long arms and 18% occurred in the pericentric or interstitial regions of recipient chromosomes. Hypomethylation of the donor 1q pericentromeric region and shortened telomeres in recipient chromosomes were associated with the formation of jumping translocations. Jumping translocations of 1q as an indication of chromosomal instability pose high risk for progression of MDS to AML and a poor prognosis. Further understanding of underlying genomic defects and their clinical significance will improve overall treatment and patient care.
机译：1q的跳跃易位是指染色体1q的断裂，它是融合到两个或多个受体染色体上的供体。我们在三名最初诊断为骨髓增生异常综合症（MDS），后来发展为急性髓细胞性白血病（AML）的患者中检测到1q的跳跃易位。文献综述发现，在30例报告的MDS和AML病例中1q跳跃易位。这33例病例的细胞遗传学发现表明，有7例具有干系克隆，而26例具有1q的从头跳跃易位，其中5％的细胞谱系具有其他结构重排。在75％的情况下，第1q供体跳到了接收者的acrocentric染色体的短臂上。大约82％的融合发生在短臂和长臂的端粒区域，而18％的融合发生在受体染色体的中枢或间质区域。供体1q着丝粒区域的甲基化不足和受体染色体中端粒的缩短与跳跃易位的形成有关。 1q跳跃易位，表明染色体不稳定，导致MDS演变为AML的高风险和不良预后。进一步了解潜在的基因组缺陷及其临床意义将改善整体治疗和患者护理。

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