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Novel JAK2 Exon 14 Mutations L611S or N622Y in cis with JAK2V617F Are Associated with Distinct Clinical Phenotype of Polycythemia Vera and Concurrent Eosinophilia.
- Source :
- Acta Haematologica; 2023, Vol. 146 Issue 1, p76-81, 6p
- Publication Year :
- 2023
-
Abstract
- Eosinophilic phenotypes in polycythemia vera (PV) and essential thrombocythemia (ET) are rare and poorly characterized. Co-occurring JAK2 mutations in cis, specifically L611S or N622Y mutations, appear to result in a more aggressive clinical phenotype. PV/ET with eosinophilic phenotypes may require full next-generation sequencing to capture co-occurring mutations as opposed to more prevalent single-gene assays. These eosinophilic phenotypes are highly thrombotic and systemic symptoms appear responsive to early use of the janus kinase inhibitor ruxolitinib. [ABSTRACT FROM AUTHOR]
- Subjects :
- POLYCYTHEMIA vera
PHENOTYPES
EOSINOPHILIA
GENETIC mutation
NUCLEOTIDE sequencing
Subjects
Details
- Language :
- English
- ISSN :
- 00015792
- Volume :
- 146
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Acta Haematologica
- Publication Type :
- Academic Journal
- Accession number :
- 161664640
- Full Text :
- https://doi.org/10.1159/000527695