Novel JAK2 Exon 14 Mutations L611S or N622Y in cis with JAK2V617F Are Associated with Distinct Clinical Phenotype of Polycythemia Vera and Concurrent Eosinophilia
| Autor: | Ameet Patel, Ridas Juskevicius, Sanjay Mohan |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Acta Haematologica. 146:76-81 |
| ISSN: | 1421-9662 0001-5792 |
| DOI: | 10.1159/000527695 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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