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

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-ol...

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Bibliographic Details
Main Authors: Georgio Medawar, Krishna Sakalabaktula, Jenna Magri, Elizabeth Rinker, Praneeth Baratam
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Hematology
Online Access:http://dx.doi.org/10.1155/crh/4360304
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Summary: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.
ISSN:2090-6579