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- Title
MİYELOPROLİFERATİF NEOPLAZMLARA MOLEKÜLER GENETİK YAKLAŞIM.
- Authors
Doğru, Gurbet; Ay, Mustafa Ertan; Çevik, Kenan; Ay, Özlem İzci
- Abstract
MPN (Myeloproliferative Neoplasms) is a clonal hematopoietic stem cell disorder which is characterized by uncontrolled proliferation of one or more than one cell type in myeloid cell lineages (erythroid, granulocytic, megakaryocytic, monocyte/macrophages and mast cells). This uncontrolled proliferation situation is considered as a result of genetic abnormalities which occurs at stem/ancestral cell level. These diseases can not dissociate and are capable to transforme each other. Molecular pathogenesis of MPN is not fully understood until the identification of JAK2 gene which was the first genetic evidence is associated with the pathogenesis of myeloproliferative disease in 2005. The mutation in JH2 domain of JAK2 gene occurs at 617 position and causes hypersensitivity againts to cytokines by mediating tyrosine phosphorylation activity. JAK2V617F mutation which was detected in 95% of patients with PV and 50-60% of patients with ET was accepted as a definitive diagnosis for MPN in 2005 by World Health Organization (WHO). This finding which plays important role in pathogenesis of MPN has shown that the molecular genetic and biologic characteristics of the diseases can be associated with clinical phenotype and another candidate gene mutations such as TET2, ASXL1, MPL, LNK, EZH2, IDH1-2, CALR assert that there might be mutations in other candidate genes.
- Publication
Nobel Medicus Journal, 2017, Vol 13, Issue 2, p12
- ISSN
1305-2381
- Publication type
Academic Journal