Myeloproliferative Neoplasms

Myeloproliferative Neoplasms

Mutations in an increasing number of genes have been found to be important in differentiating between myeloproliferative neoplasms. The first, identified in 2005, is a point mutation in exon 14 of the JAK-2 gene, (V617F, c.1849G>T). This affects a protein kinase which plays an important role in normal haemopoietic growth factor signalling. Additional mutations in exons 12 of the JAK-2 gene, exon 10 of the MPL gene and exon 9 of Calreticulin have since also been linked with myeloproliferative disorders.

There is some evidence that the level of the V617F mutation is related to the progress of disease in myeloproliferative disorders. Quantitative analysis, therefore, may have clinical utility in monitoring disease progression.

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