两种新的易位在急性髓系白血病中破坏RUNX1基因。

Two novel translocations disrupt the RUNX1 gene in acute myeloid leukemia.

作者信息

Dai Haiping, Xue Yongquan, Pan Jinlan, Wu Yafang, Wang Yong, Shen Juan, Zhang Jun

机构信息

Jiangsu Institute of Hematology, First Affiliated Hospital of Soochow University, 188 Shizi Street, 215006 Suzhou, People's Republic of China.

出版信息

Cancer Genet Cytogenet. 2007 Sep;177(2):120-4. doi: 10.1016/j.cancergencyto.2007.04.018.

DOI:10.1016/j.cancergencyto.2007.04.018

PMID:17854666

Abstract

Translocations involving 21q22 are commonly observed in both de novo and therapy-related acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). They often result in the disruption of RUNX1 and give rise to fusion genes consisting of RUNX1 and different partner genes, which contribute to leukemogenesis. To date, at least 21 such translocations are known from the literature. Here we report two novel translocations involving the RUNX1 gene: t(1;21)(q12;q22) in a 53-year-old woman with AML-M5b and t(11;21)(q13;q22) in a 65-year-old man with AML-M2. The abnormalities revealed by R-banding karyotypic analysis were confirmed with interphase and metaphase fluorescence in situ hybridization (FISH), chromosome painting, and M-FISH.

摘要

涉及21q22的易位在原发性和治疗相关的急性髓系白血病（AML）及骨髓增生异常综合征（MDS）中均常见。它们常导致RUNX1中断，并产生由RUNX1和不同伙伴基因组成的融合基因，这些基因促成白血病发生。迄今为止，文献中已知至少有21种此类易位。在此，我们报告两例涉及RUNX1基因的新型易位：1例53岁AML-M5b女性患者的t(1;21)(q12;q22)和1例65岁AML-M2男性患者的t(11;21)(q13;q22)。R带核型分析所揭示的异常通过间期和中期荧光原位杂交（FISH）、染色体涂染及M-FISH得以证实。