Sociedad Argentina de Hematología

Revista Hematología

 

 

 

 

 

Revista Argentina de Hematología

Abstract

Volumen:    17    # Number : 2

Publication Date :    Mayo - Agosto    Year:    2013

   LABORATORIO EN HEMATOLOGIA

Authors: Lev P.R., Heller P.G.

Abstract: The JAK2V617 mutation is the most frequent molecular abnormality underlying the pathogenesis of chronic myeloproliferative neoplasmas. More than 95% of patients with polycythemia vera and around half of those with essential thrombocythemia and primary myelofibrosis carry this mutation. It is useful to distinguish clonal from reactive conditions and is one of the diagnostic criteria included in the WHO classification. It may be detected, albeit with low frequency, in other myeloid neoplasms. Although a moderate increase in the thrombotic risk has been described for JAK2V617F-positive essential thrombocythemia patients, its presence does not represent by itself a parameter to guide treatment recommendations. Patients with high JAK2V617F allelic burden have increased risk of thrombosis and myelofibrotic transformation. However, the role of allele burden measurement in the clinical management and treatment monitoring of patients with myeloproliferative neoplasms remains to be determined.

Key words: JAK2V617F, allele burden, myeloproliferative neoplasms

Pages : 176-178

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