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. Author manuscript; available in PMC: 2015 Jun 2.
Published in final edited form as: Int J Lab Hematol. 2010 Jul 7;32(5):461–476. doi: 10.1111/j.1751-553X.2010.01246.x

Table 2.

Gene mutations in myeloproliferative neoplasms with activated receptor tyrosine kinases

Disease entity Gene Mechanism of activation Main cell target
CML BCR-ABL1 t(9;22)(q34;q11) all myeloid cells
PV JAK2 point mutation (V617F) erythroid cells, granulocytes, megakaryocytes
ET JAK2MPL point mutation (V617F, W515L/K) megakaryocytes
PMF JAK2MPL point mutation (V617F, W515L/K) granulocytes, erythroid cells, megakaryocytes
Mastocytosis KIT point mutation (D816V) mast cells
MPN with eosinophilia PDGFRA-FIP1L1 interstitial deletion at 4q12 eosinophils, mast cells
MPN with eosinophilia ETV6-PDGFRB t(5;12)(q31–33;p13) eosiniphils
MPN with eosinophilia FGFR1-ZNF198 t(8;13)(p11;q12) eosinophils

CML, chronic myelogenous leukemia; PV, polycythemia vera; ET, essential thrombocythemia; PNF, primary myelofibrosis; MPN, myeloproliferative neoplasm