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Concomitant BCR-ABL1 Translocation and JAK2V617F Mutation in Three Patients with Myeloproliferative Neoplasms

Hummel, Jennifer M. MD, MPH*; Kletecka, M. Carmen Frias MD; Sanks, Jennifer K. BS, MT(ASCP), MB(ASCP)CM*; Chiselite, Mihaela D. MD*; Roulston, Diane PhD*; Smith, Lauren B. MD*; Czuchlewski, David R. MD; Elenitoba-Johnson, Kojo S. J. MD*; Lim, Megan S. MD, PhD*

doi: 10.1097/PDM.0b013e318246975e
Case Reports
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Chronic myeloproliferative neoplasms (MPN) are clonal disorders of hematopoietic stem cells, which fall into distinct categories based on a number of characteristics including the presence of the BCR-ABL1 gene fusion (chronic myelogenous leukemia) or the JAK2V617F mutation (polycythemia vera, primary myelofibrosis, and essential thrombocythemia). One of the criteria in the 2008 World Health Organization Classification divides MPN into different categories based on the presence of an underlying genetic abnormality, however the WHO does not currently address the classification of myeloproliferative neoplasms that have more than one genetic abnormality. The coexistence of a JAK2V617F mutation and BCR-ABL1 is rare, and to our knowledge, less than 25 cases have been reported in the literature. Our case series examines the clinical, histopathologic, and genetic features of 3 patients with myeloproliferative neoplasms characterized by concomitant BCR-ABL1 and JAK2V617F. The implications for diagnosis and treatment of patients with concomitant BCR-ABL1 and JAK2V617F are discussed as well as how the BCR-ABL1 and JAK2V617F-positive clones may be related to one another.

*Department of Pathology, University of Michigan, Ann Arbor, Michigan

Department of Pathology, University of New Mexico, Albuquerque, New Mexico

The authors declare no conflict of interest.

Reprints: Megan S. Lim, MD, PhD, Department of Pathology, University of Michigan, Ann Arbor, MI 48109-2200 (e-mail: meganlim@umich.edu).

© 2012 Lippincott Williams & Wilkins, Inc.