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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