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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 myeloidleukemia.
(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 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.