JAK2 Mutations Are Rare and Diverse in Myelodysplastic Syndromes: Case Series and Review of the Literature
To investigate and characterize mutations in myelodysplastic syndrome (MDS), we present three cases with diverse mutations and review the literature. The institutional SoftPath software was used to find MDS cases between January 2020 and April 2022. The cases with a diagnosis of a myelodysplastic/my...
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Published in | Hematology reports Vol. 15; no. 1; pp. 73 - 87 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Switzerland
MDPI AG
18.01.2023
MDPI |
Subjects | |
Online Access | Get full text |
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Summary: | To investigate and characterize
mutations in myelodysplastic syndrome (MDS), we present three cases with diverse
mutations and review the literature.
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.
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.
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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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1 |
ISSN: | 2038-8322 2038-8330 2038-8330 |
DOI: | 10.3390/hematolrep15010008 |