Yao Hong, Pan Jinlan, Wu Chunxiao, Shen Hongjie, Xie Jundan, Wang Qinrong, Wen Lijun, Wang Qian, Ma Liang, Wu Lili, Ping Nana, Zhao Yun, Sun Aining, Chen Suning
Jiangsu Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University, Suzhou, P.R. China.
Cyrus Tang Hematology Center, Jiangsu Institute of Hematology, the First Affiliated Hospital, Soochow University, Suzhou, P.R. China.
Mol Cancer. 2015 Apr 11;14:81. doi: 10.1186/s12943-015-0353-x.
RUNX1/AML1, which is a Runt family transcription factor critical for normal hematopoiesis, is frequently mutated or translocated in a broad spectrum of hematopoietic malignancies.
We describe here the case of a 54-year-old female developed acute myeloid leukemia with a t(5;21)(q21;q22). Transcriptome sequencing identified the chromodomain-helicase-DNA-binding protein 1 gene, CHD1, as a novel partner gene of RUNX1. Furthermore, the patient was found to harbor FLT3-ITD mutation, which might collaborated with CHD1-RUNX1 in the development of acute myeloid leukemia.
We have identified CHD1 as the RUNX1 fusion partner in acute myeloid leukemia with t(5;21)(q21;q22).
RUNX1/AML1是一种对正常造血至关重要的Runt家族转录因子，在多种造血系统恶性肿瘤中经常发生突变或易位。
我们在此描述了一名54岁女性患急性髓系白血病且伴有t(5;21)(q21;q22)的病例。转录组测序确定染色质结构域解旋酶DNA结合蛋白1基因（CHD1）为RUNX1的一个新的伙伴基因。此外，发现该患者携带FLT3-ITD突变，其可能在急性髓系白血病的发生发展中与CHD1-RUNX1相互作用。
我们已确定CHD1是伴有t(5;21)(q21;q22)的急性髓系白血病中RUNX1的融合伙伴。
