, Volume 91, Issue 4, pp 637-638
Date: 22 Jul 2011

Chronic myeloproliferative disorder with ETV6-PDGFRβ fusion gene

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Dear Editor,

PDGFRα and PDGFRβ mutations result in a myeloproliferative state [1, 2]. These are BCR-ABL1 negative and referred as atypical CML or more broadly unclassifiable myeloproliferative or myelodysplastic/myeloproliferative disease. The PDGFRβ gene is located on chromosome 5q33. This gene can get disrupted by various chromosomal translocations involving 5q33 and other partner chromosomes. One of the translocation is (5:12), which causes fusion of ETV6 and PDGFRβ. Although very rare, some of the common features were the presence of eosinophilia or monocytosis in peripheral blood and bone marrow. It has been mostly reported in males. Blast crisis has been reported in a few. Interest in better characterizing this disease has increased recently with the potential of response to imatinib.

We have a 55-year-old female with no significant past medical history was found to have a white blood cell (WBC) count of 22.7 × 109 on routine laboratory testing. She was asymptomatic at the time of ...