JAK2 mutations in polycythemia vera - Molecular mechanisms and clinical applications

Article Abstract:

Researchers have reported the presence of an acquired Janus kinase 2 (JAK2) mutation, named JAK2 V617F, in association with polycythemia vera and related myeloproliferative disorders. The discoveries of exon 14 JAK2 V617F and the exon 12 JAK2 mutations enable a molecular classification of the myeloproliferative diseases, but drawing conclusions about their clinical relevance and applications is impossible without a complete knowledge of their molecular mechanisms.

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JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis

Article Abstract:

An attempt is made to identify new mutations in members of the Janus kinase (JAK) 2 gene and signal transducer and activator of transcription gene families in patients with V617F-negative polycythemia vera or idiopathic erythrocytosis. Studies reveal that JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome that affects patients currently diagnosed with polycythemia vera or idiopathic erythrocytosis.

Polycythemia

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A gain-of-function mutation of JAK2 in myeloproliferative disorders

Article Abstract:

The loss of heterozygosity (LOH) on the short arm of chromosome 9 (9pLOH) in myeloproliferative disorders suggests that 9p harbors a mutation that contributes to the cause of clonal expansion of hematopoietic cells in these diseases. A high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.

United Kingdom, Diagnosis, Risk factors, Hematopoietic growth factors

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