Resumo

AMOR-VIGIL, Ana María et al. Introduction of the molecular study of JAK2V617F mutation in classic BCR-ABL negative myeloproliferative neoplasms. Rev Cubana Hematol Inmunol Hemoter [online]. 2013, vol.29, n.4, pp. 398-406. ISSN 0864-0289.

Molecular studies in myeloproliferative neoplasms have reached importance to distinguish between a reactive and a clonal disease and in some cases, to assess the response to treatment. The JAK2V617F mutation appears mostly in the classic BCR-ABL negative myeloproliferative neoplasms: polycythemia vera, essential thrombocythemia and primary myelofibrosis. The study of this mutation and others less frequent was recommended by the World Health Organization since 2008, as diagnostic criteria in these three disorders. In order to introduce the study of JAK2V617F mutation by allele-specific polymerase chain reaction, 26 patients divided in three groups were studied. Firstly, ten patients previously diagnosed as PV who had received treatment, showed 90 % of positivity. In a second group, 80 % of five patients in which BCR-ABL was negative, worked out positive for the mutation. Finally, 11 patients with suspected PV, showed 91 % of positivity. This short report represents a first step in the introduction of the molecular study for diagnosis of classical myeloproliferative neoplasms not classified as chronic myeloid leukemia.

Palavras-chave : JAK2V617F mutation; polycythemia vera; myeloproliferative neoplasms.

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