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Start Over Author "Patel, Ameet" Journal acta haematologica
4 results on '"Patel, Ameet"'

2. Novel JAK2 Exon 14 Mutations L611S or N622Y in cis with JAK2V617F Are Associated with Distinct Clinical Phenotype of Polycythemia Vera and Concurrent Eosinophilia.

Author

Patel, Ameet, Juskevicius, Ridas, and Mohan, Sanjay

Subjects
*POLYCYTHEMIA vera, *PHENOTYPES, *EOSINOPHILIA, *GENETIC mutation, *NUCLEOTIDE sequencing
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]

Published
2023
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4. Novel JAK2 Exon 14 Mutations L611S or N622Y in cis with JAK2V617F Are Associated with Distinct Clinical Phenotype of Polycythemia Vera and Concurrent Eosinophilia.

Author

Patel A, Juskevicius R, and Mohan S

Subjects
Humans, Mutation, Phenotype, Exons, Janus Kinase 2 genetics, Polycythemia Vera diagnosis, Polycythemia Vera genetics, Thrombocythemia, Essential genetics, Eosinophilia genetics
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., (© 2022 S. Karger AG, Basel.)

Published
2023
Full Text
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