2015, Number 2
Rev Cubana Hematol Inmunol Hemoter 2015; 31 (2)
Fernández DN, Martínez FD, Román TR, Amor VAM, Fundora ST, Macía PI, Hernández RL
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ABSTRACTIntroduction: Polycythemia vera is a BCR/ABL negative myeloproliferative neoplasm in which the JAK2V617F mutation has been described in more than 90 % of cases. At the Institute of Hematology and Immunology determination of this mutation was introduced since the second half of 2008.
Objectives: to identify the percentage of positive patients for the JAK2V617F mutation and correlate this with the remaining variables possible to be studied in Cuba.
Methods: a descriptive study that included 45 patients, 15 previously diagnosed and 30 of new diagnosis, was carried out. All patients were evaluated according to 2001 and 2008 WHO criteria, with the following variables: demonstrated erythrocytosis, absence of secondary causes, visceromegaly, results of hemogram, bone marrow biopsy at diagnosis and molecular study.
Results: mutation was positive in 86,6 % (n = 39) of the patients with confirmed diagnosis by both WHO criteria. Two patients were considered unclassificable myeloproliferative neoplasms. Age was smaller in patients negative for the mutation (p = 0.03). The presence of the mutation was related to slightly superior leukocyte count, significant thrombocytosis (p = 0,000) and larger morphological changes in bone marrow histology.
Conclusions: these results show that it is possible to make the diagnosis of PV with the use of 2001 WHO criteria, but the molecular testing leads to an accurate diagnosis and contributes to reduce the rate of error. However, an objective review of current criteria might guarantee an accurate diagnosis in any place of the world.