Hao Qishan, Zhang Qi, Li Chengwen, Wei Shuning, Li Qinghua, Song Yang, Mi Yingchang
Department of Leukemia, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, P.R. China.
Zibo Central Hospital, Zibo, Shandong 255000, P.R. China.
Oncol Lett. 2017 Dec;14(6):7021-7024. doi: 10.3892/ol.2017.7133. Epub 2017 Oct 3.
The present case report describes a 46-year-old female patient diagnosed with M4 acute myeloid leukemia (AML), accompanied with a t(1;9)(p22;q34) chromosomal abnormality. Transcriptome sequencing identified a DEK proto-oncogene (DEK)/nucleoporin (NUP)214 fusion gene, which results from the t(6;9)(p23;q34) chromosomal translocation. Polymerase chain reaction analysis and fluorescence hybridization were used to verify the existence of the DEK/NUP214 fusion gene. Few patients with AML with the t(6;9)(p23;q34) chromosomal translocation have been reported to have other chromosomal or karyotype changes. To our knowledge, no AML patient with the DEK/NUP214fusion gene but without the classic t(6;9)(p23;q34) translocations had been reported until now. The prognosis of AML cases with the DEK/NUP214 fusion gene is poor. The rate of complete remission is ~65% (71% in children, 58% in adult patients), while the estimated 5-year survival rate is 28% for children and 9% for adults. The 2008 revision of World Health Organization classification have defined the DEK/NUP214 mutation as a recurrent genetic abnormality of AML. The overall survival of the patient in the current report was ~29 months, and they relapsed twice. To the best of our knowledge, this is the first report of at(1;9)(p22;q34) variant translocation that results in expression of the DEK/NUP214 fusion gene.
本病例报告描述了一名46岁女性患者，被诊断为M4型急性髓系白血病（AML），伴有t(1;9)(p22;q34)染色体异常。转录组测序鉴定出一种DEK原癌基因（DEK）/核孔蛋白（NUP）214融合基因，其由t(6;9)(p23;q34)染色体易位产生。采用聚合酶链反应分析和荧光杂交来验证DEK/NUP214融合基因的存在。据报道，很少有伴有t(6;9)(p23;q34)染色体易位的AML患者存在其他染色体或核型改变。据我们所知，迄今为止尚未报道过有DEK/NUP214融合基因但无经典t(6;9)(p23;q34)易位的AML患者。伴有DEK/NUP214融合基因的AML病例预后较差。完全缓解率约为65%（儿童为71%，成年患者为58%），而儿童的估计5年生存率为28%，成年人为9%。世界卫生组织2008年修订版将DEK/NUP214突变定义为AML的一种复发性基因异常。本报告中患者的总生存期约为29个月，且复发了两次。据我们所知，这是首次报道由t(1;9)(p22;q34)变异易位导致DEK/NUP214融合基因表达的病例。
