Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6
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Jingyi Li1,2,*, Jie Xu1,*, Lynne V. Abruzzo1,3, Guilin Tang1, Shaoying Li1, M. James You1, Gary Lu1,4, Elias J. Jabbour5, Qi Deng2, Carlos E. Bueso-Ramos1, L. Jeffrey Medeiros1 and C. Cameron Yin1
1Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
2Department of Hematology, Tianjin First Center Hospital, Tianjin, China
3Current address: Department of Pathology, The Ohio State University, College of Medicine, Columbus, OH, USA
4Current address: Department of Biomedical Sciences, University of South Carolina School of Medicine, Greenville, SC, USA
5Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
*These authors contributed equally to this work
C. Cameron Yin, email: [email protected]
Keywords: acute myeloid leukemia; t(4;12)(q12;p13); PDGFRA; ETV6
Received: September 21, 2017 Accepted: October 13, 2017 Published: December 15, 2017
We describe the clinical, morphologic, immunophenotypic and molecular genetic features of 15 cases of acute myeloid leukemia (AML) with t(4;12)(q12;p13). There were 9 men and 6 women, with a median age of 50 years (range, 17–76). Most patients had hypercellular bone marrow with a median blast count of 58% and multilineage dysplasia. Flow cytometry analysis showed myeloid lineage with blasts positive for CD13, CD33, CD34, CD38, CD117 and HLA-DR. Interestingly, aberrant CD7 expression was detected in 12/14 cases, and myeloperoxidase was either negative (3/15) or positive in only a small subset of the blasts (12/15). t(4;12)(q12;p13) was detected at time of initial diagnosis in 4 and at relapse or progression in 9 patients. The initial karyotype was unknown in 2 cases. FISH analysis showed PDGFRA-ETV6 rearrangement in all 7 cases assessed. FLT3 ITD was detected in 2/11 cases and IDH2 and JAK2 mutation were each detected in 1/2 cases assessed. There were no mutations of KRAS (0/8), NRAS (0/8), CEBPA (0/3), KIT (0/3), NPM1 (0/3) or IDH1 (0/2). All patients received aggressive multiagent chemotherapy; 7 patients additionally received stem cell transplantation. With a median follow-up of 10 months (range, 6–51), 13 patients died of AML, 1 patient had persistent disease, and 1 patient was lost to follow-up. In summary, AML with t(4;12)(q12;p13) is usually associated with myelodysplasia, aberrant CD7 expression, weak of absent myeloperoxidase expression, frequent PDGFRA-ETV6 fusion, and an aggressive clinical course. The molecular findings suggest that there may be a role for tyrosine kinase inhibitors in patient management.
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