KIT V560D‐Mutated Systemic Mastocytosis Associated With High‐Risk Myelodysplastic Syndrome: A Unique Case of Systemic Mastocytosis–Associated Hematologic Neoplasm

Abstract

Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM‐associated hematologic neoplasm (SM‐AHN) is one of the advanced SM variants that usually confer a poor prognosis. We present a case of a 75‐year‐old female patient with SM‐AHN, specifically myelodysplastic syndrome (MDS), that harbored a unique KIT mutation KIT V560D, not previously described in the literature in this setting. We describe the clinical course and the outcome with the use of avapritinib, midostaurin, and decitabine‐cedazuridine.Trial Registration: ClinicalTrials.gov identifier: NCT00782067