Coexistence of p210BCR‑ABL and CBFβ‑MYH11 fusion genes in myeloid leukemia: A report of 4 cases

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

doi:10.3892/ol.2017.6812

Coexistence of p210BCR‑ABL and CBFβ‑MYH11 fusion genes in myeloid leukemia: A report of 4 cases

Authors:
- Yuan‑Yuan Wang
- Wen‑Jing Ding
- Feng Jiang
- Zi‑Xing Chen
- Jian‑Nong Cen
- Xiao‑Fei Qi
- Jian‑Ying Liang
- Dan‑Dan Liu
- Jin‑Lan Pan
- Su‑Ning Chen
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Affiliations: 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, The Second People's Hospital of Chizhou, Chizhou, Anhui 247100, P.R. China
Published online on: August 24, 2017 https://doi.org/10.3892/ol.2017.6812
Pages: 5171-5178
Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Numerous acquired molecular and cytogenetic abnormalities are strongly associated with hematological malignancies. The breakpoint cluster region‑ABL proto‑oncogene 1 (BCR‑ABL) 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 de novo acute myeloid leukemia (AML) carry a p190BCR‑ABL fusion protein. Cases of patients with AML/CML carrying two specific primary molecular changes, BCR‑ABL and core binding factor‑β‑myosin heavy chain 11 (CBFβ‑MYH11) 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 BCR‑ABL and CBFβ‑MYH11 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 reactionof p210BCR‑ABL and CBFβ‑MYH11 transcripts as well as cytogenetic and fluorescence in situ hybridization analyses were performed. A total of 4 patients who exhibited fusion of p210BCR‑ABL and CBFβ‑MYH11 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 achieve dremission following conventional chemotherapy/hematological stem cell transplantation combined with the inhibitor of tyrosine kinase (TKI) maintenance therapy. The patients with CML carrying and expressing BCR‑ABL and CBFβ‑MYH11 fusion genes appeared more likely to rapidly progress to AP or BC. Therefore, the product of the CBFβ‑MYH11 fusion gene may serve an important role in the transformation of CML. The co‑expression of p210BCR‑ABL and CBFβ‑MYH11 fusion genes in myeloid leukemia may be a molecular event occurring not only during the development of CML, but also in AML.

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