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Code grade specified by pathologist. If no grade specified, code 9
Chronic myelomonocytic leukemia with eosinophilia associated with t(5;12)
One of three myeloproliferative and lymphoid neoplasms associated with rearrangement of PDGFRA, PDGFRB and FGFR1. All result from formation of a fusion gene encoding an aberrant tyrosine kinase. This disease occurs in association with rearrangement of PDGFRB at 5q31-33. Usually there is (5;12)(q31-33;p12) with formation of an ETV6-PDGFRB fusion gene. The features are most consistent with CMML, but some patients have been characterized as atypical chronic myeloid leukemia.
(This code is effective for cases diagnosed 2010 and later. For cases diagnosed prior to 2010 see code 9960/3.) Myeloid neoplasms with PDGFRB rearrangement is a myeloproliferative neoplasm associated with t(5;12)(q31-33;p12). It is a multisystem disorder. The peripheral blood and bone marrow are always involved. The spleen is enlarged in majority of patients. Skin infiltration may be present and some have cardiac damage leading to cardiac failure. Serum tryptase may be mildly or moderately elevated. The white cell count is increased. There may be anemia and thrombocytopenia. This neoplasm is considerably more common in men and has a wide age range (8-12 years) with the peak incidence being in middle-aged adults. Median age of onset is in the late 49's. Patients have splenomegaly with hepatomegaly being present in a majority. A good majority of patients treated with imatinib have been responsive.