Research Papers:

This article has been corrected. Correction in: Oncotarget. 2018; 9:34449.

Acute myeloid leukemia with t(4;12)(q12;p13): an aggressive disease with frequent involvement of PDGFRA and ETV6

Jingyi Li _, Jie Xu, Lynne V. Abruzzo, Guilin Tang, Shaoying Li, M. James You, Gary Lu, Elias J. Jabbour, Qi Deng, Carlos E. Bueso-Ramos, L. Jeffrey Medeiros and C. Cameron Yin

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Oncotarget. 2018; 9:10987-10994. https://doi.org/10.18632/oncotarget.23743

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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

Correspondence to:

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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