FISH FOR PDGFR BETA

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What is this Test About?
Platelet derived growth factor receptor beta (PDGFRB) is a part of a family of proteins called receptor tyrosine kinases. Commonest mutation in PDGFRB gene is the translocation of PDGFRB gene with ETV6 gene forming a variant called ETS variant gene 6. Patients with PDGFRB-ETV6 fusion present with myeloid/lymphoid neoplasms with eosinophilia (Clonal eosinophilia as per WHO) eg. Chronic/Juveile myelomonocytic leukemia, Atypical Chronic myeloid leukemia, Myelodysplastic syndromes, Acute myelogenous/lymphoblastic leukemias etc. These patients respond well to Imatinib therapy.
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