2016, Number 3
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Rev Hematol Mex 2016; 17 (3)
Clinical implications of the detection of the JAK2 V617F gene mutation in patients with chronic myeloproliferative neoplasms
Martínez-Flores JL, Ramos-Peñafiel CO, Santoyo-Sánchez A, Kassack-Ipiña JJ, Gallardo-Trillanes E, Castellanos-Sinco H, Olarte-Carrillo I, Martínez-Tovar A, Collazo-Jaloma J
Language: Spanish
References: 29
Page: 161-168
PDF size: 487.95 Kb.
ABSTRACT
Background: JAK2 V617F mutation has been found in most patients
with chronic myeloproliferative neoplasms, so it is included within
the new diagnostic criteria. However, few studies analyze the epidemiology
of chronic myeloproliferative neoplasms in Latin American
population, where they are not so frequent.
Objetive: To describe the clinical and prognostic implications
of JAK2 V617F mutation in a cohort of patients with the following
chronic myeloproliferative neoplasms: polycythemia vera, essential
thrombocythemia and primary myelofibrosis.
Material and Method: A retrospective, observational, analytical
and descriptive study of patients with chronic myeloproliferative
neoplasms, attended during 2001-2014. The medical records should
have the outcome of the study to identify the JAK2 V617F mutation.
Results: Thirty-eight patients were included: 55% (n=21) with essential
thrombocythemia, 32% (n=12) with primary myelofibrosis and 13% (n=5)
with polycythemia vera. JAK2 V617F was present in 45% (n=17) of cases.
The absence or presence of JAK2 V617F did not influence the clinical presentation.
The average overall survival was 110.5±15 months. There were
not deaths in patients without the analyzed mutation (12 years of follow-up),
vs a mean survival of 6.1 years in patients with JAK2 V617F (log-rank test,
p=0.015), although there was no significant difference when a subanalysis
for each chronic myeloproliferative neoplasms was performed.
Conclusion: Nowadays JAK2 V617F detection facilitates the
diagnosis and there are drugs aimed at this target. However, their
expression in Mexican population is not as frequent, and investigation
about this should be extended.
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