Myeloid neoplasms with PDGFRB rearrangement
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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.
Myeloid neoplasms with PDGFRB rearrangement is a myeloproliferative neoplasm associated with t(5;12)(q31-33;p12). It is a multi-system disorder. The peripheral blood and bone marrow are always involved.
Skin infiltration may be present and some have cardiac damage leading to cardiac failure. Serum tryptase may be mildly or moderately elevated.