Mutations Are Rare and Diverse in Myelodysplastic Syndromes: Case Series and Review of the Literature

Overview

Journal Hematol Rep

Publisher MDPI

Date 2023 Feb 22

PMID 36810551

Authors

Melissa Delio

Christine Bryke

Lourdes Mendez

Loren Joseph

Sarmad Jassim

Affiliations

Soon will be listed here.

Abstract

Objectives: To investigate and characterize mutations in myelodysplastic syndrome (MDS), we present three cases with diverse mutations and review the literature.

Methods: The institutional SoftPath software was used to find MDS cases between January 2020 and April 2022. The cases with a diagnosis of a myelodysplastic/myeloproliferative overlap syndrome including MDS/MPN with ring sideroblasts and thrombocytosis were excluded. The cases with molecular data by next generation sequencing looking for gene aberrations commonly seen in myeloid neoplasms were reviewed for the detection of mutations including variants. A literature review on the identification, characterization, and significance of mutations in MDS was performed.

Results: Among 107 cases of the MDS reviewed, a mutation was present in three cases, representing 2.8% of the overall cases. A mutation was found in one case representing slightly less than 1% of all the MDS cases. In addition, we found and point mutation variants to be associated with a myelodysplastic phenotype.

Conclusions: mutations in MDS are rare and represent less than 3% of cases. It appears that variant mutations in MDS are diverse and further studies are needed to understand their role in the phenotype and prognosis of the disease.

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