Sociedad Argentina de Hematología

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Revista Argentina de Hematología

Abstract

Volumen:    21    # Number : XXIII Congreso Argentino de Hematología

Publication Date :    Noviembre    Year:    2017

   NEOPLASIAS MIELOPROLIFERATIVAS

Genetics and prognosis in myeloproliferative neoplasms

Authors: Guglielmelli P, Rotunno G, Pacilli A, Vannucchi AM

Abstract: Recent advances in the understanding of the molecular landscape of chronic myeloproliferative neoplasms (MPN) have remarkably improved the diagnostic approach to these hematologic neoplasia. Furthermore, it is increasingly being appreciated how the presence of specific mutations contributes to better defining the prognosis, particularly for patients with essential thrombocythemia and primary myelofibrosis. The three phenotypic drivers mutations, involving JAK2 (V617F, exon 12 mutations), MPL and CALR, are included as major diagnostic criteria in the WHO classification, and point to different risk categories. Mutations in genes of the epigenetic regulation and the spliceasome, considered as subclonal mutations, have no diagnostic value since they occur in a wide spectrum of myeloid neoplasms, but deserve major prognostication significance and contribute to identify categories of patients with different survival and risk of leukemia. We will address these aspects to elucidate how mutational analysis may contribute to advanced assessment of MPN patients. Further enhancement of risk stratification in MPN is possible by combining cytogenetic and/or mutation information with clinical and hematological data. Developing an integrated prognostic model would facilitate therapeutic decision making for the individual patient.

Key words: mutation, karyotype, prognosis

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