Wang Yuan-Yuan, Ding Wen-Jing, Jiang Feng, Chen Zi-Xing, Cen Jian-Nong, Qi Xiao-Fei, Liang Jian-Ying, Liu Dan-Dan, Pan Jin-Lan, Chen Su-Ning
Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Collaborative Innovation Center of Hematology, Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou, Jiangsu 215006, P.R. China.
Central Hospital of Zibo, Zibo, Shandong 255036, P.R. China.
Oncol Lett. 2017 Nov;14(5):5171-5178. doi: 10.3892/ol.2017.6812. Epub 2017 Aug 24.
Numerous acquired molecular and cytogenetic abnormalities are strongly associated with hematological malignancies. The breakpoint cluster region-ABL proto-oncogene 1 () rearrangement leads to a p210 chimeric protein in typical chronic myeloid leukemia (CML), whereas 17-25% of patients with acute lymphocytic leukemia and 0.9-3% patients with acute myeloid leukemia (AML) carry a p190 fusion protein. Cases of patients with AML/CML carrying two specific primary molecular changes, and core binding factor-β-myosin heavy chain 11 () fusion genes have been rarely reported. The present study aimed to understand the nature and mechanism of this particular type of leukemia through case reports and literature review. A total of four patients who were diagnosed as AML/CML with and fusion genes in the First Affiliated Hospital of Soochow University (Suzhou, China) between January 2004 and December 2012 were examined. Morphological analysis of bone marrow cells, flow cytometry, quantitative polymerase chain reaction of and transcripts as well as cytogenetic and fluorescence hybridization analyses were performed. A total of 4 patients who exhibited fusion of and were identified. A single patient (case 1) was first diagnosed CML-acute phase (AP), which progressed rapidly to CML-blast crisis (BC), and three patients (cases 2, 3 and 4) were diagnosed with AML with bone marrow eosinophilia at first presentation with no evidence of previous onset of CML. All cases achieved remission following conventional chemotherapy/hematological stem cell transplantation combined with the inhibitor of tyrosine kinase (TKI) maintenance therapy. The patients with CML carrying and expressing and fusion genes appeared more likely to rapidly progress to AP or BC. Therefore, the product of the fusion gene may serve an important role in the transformation of CML. The co-expression of p and fusion genes in myeloid leukemia may be a molecular event occurring not only during the development of CML, but also in AML.
众多获得性分子和细胞遗传学异常与血液系统恶性肿瘤密切相关。典型慢性髓性白血病（CML）中，断裂簇区域-ABL原癌基因1（）重排导致p210嵌合蛋白产生，而17% - 25%的急性淋巴细胞白血病患者和0.9% - 3%的急性髓性白血病（AML）患者携带p190融合蛋白。AML/CML患者同时携带两种特定原发性分子改变以及核心结合因子-β-肌球蛋白重链11（）融合基因的病例鲜有报道。本研究旨在通过病例报告和文献综述了解这种特殊类型白血病的性质和机制。对2004年1月至2012年12月期间在苏州大学附属第一医院（中国苏州）被诊断为携带和融合基因的AML/CML的4例患者进行了检查。进行了骨髓细胞形态学分析、流式细胞术、和转录本的定量聚合酶链反应以及细胞遗传学和荧光原位杂交分析。共鉴定出4例表现出和融合的患者。1例患者（病例1）最初被诊断为CML急性期（AP），并迅速进展为CML急变期（BC），3例患者（病例2、3和4）初诊时被诊断为伴有骨髓嗜酸性粒细胞增多的AML，无既往CML发病证据。所有病例在接受传统化疗/血液干细胞移植联合酪氨酸激酶抑制剂（TKI）维持治疗后均达到缓解。携带并表达和融合基因的CML患者似乎更易迅速进展为AP或BC。因此，融合基因产物可能在CML的转化中起重要作用。p和融合基因在髓系白血病中的共表达可能不仅是CML发生发展过程中出现的分子事件，在AML中也可能发生。
