Nadir Miyeloproliferatif Bozukluklar: Miyeloproliferatif Neoplazilerin Genetiği

Turkiye Klinikleri J Hematol-Special Topics 06/2013; 6(1):1-12.


Myeloproliferative neoplasms (MPNs) are clonal hematopoietic disorders originated from genetically transformed stem cells and characterized by myeloid hyperplasia and increased risk for leukemic
transformation. Since the discovery of JAK2-V617F mutation in 2005, our understanding on the molecular and genetic mechanisms underlying the initiation and prognosis of MPNs has been significantly improved. Unlike CML, for which diagnosis and treatment options almost completely rest upon the
BCR-ABL1 fusion gene, pathogenesis of BCR-ABL1-negative MPNs involves highly complex and interrelated processes. It has been shown that mutations in genes involved in cytokine receptor signaling including tyrosine kinases, in RNA splicing and epigenetic machinery as well as in those encoding crucial
transcription factors contribute to the MPN phenotype. Yet, there are many fundamental questions about
the pathogenesis of BCR-ABL1 negative MPNs waiting to be answered. Improvements in
genetic/genomic/epigenetic techniques and widespread use of them will provide an important opportunity in complete identification of somatic mutations, chromosomal rearrangements, and copy number alterations
associated with MPNs