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 inHematology reports Vol. 15; no. 1; pp. 73 - 87
Main Authors Delio, Melissa, Bryke, Christine, Mendez, Lourdes, Joseph, Loren, Jassim, Sarmad
Format Journal Article
LanguageEnglish
Published Switzerland MDPI AG 18.01.2023
MDPI
Subjects
Anemia
Bone marrow
deletion 7q
Genotype & phenotype
JAK2 mutation
Janus kinase 2
Kinases
Leukemia
Literature reviews
MDS
Medical prognosis
Mutation
Myelodysplastic syndrome
Myelodysplastic syndromes
Next-generation sequencing
Patients
Phenotypes
Point mutation
Review
Sideroblasts
Thrombocytosis
Tumors
JAK2 mutation
myelodysplastic syndrome
MDS
deletion 7q
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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.
Bibliography:ObjectType-Article-2
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ISSN:2038-8322
2038-8330
2038-8330
DOI:10.3390/hematolrep15010008