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Anales de la Facultad de Ciencias Médicas (Asunción)

Print version ISSN 1816-8949


ESPINOLA CANO, AF  and  INSTITUTO DE INVESTIGACIONES EN CIENCIAS DE LA SALUD. UNIVERSIDAD NACIONAL DE ASUNCION. Hematopatología y Genética Molecular et al. JAK2V617F mutation detection in patients with clinical suspicion of myeloproliferative neoplasm without leukemic expression. Preliminary study.. An. Fac. Cienc. Méd. (Asunción) [online]. 2014, vol.47, n.2, pp.41-50. ISSN 1816-8949.

ABSTRACT Myeloproliferative neoplasms are clonal disorders of the haematopoietic stem cell characterized by the myeloid progenitors proliferation in bone marrow. Polycythemia vera, essential thorombocythemia and primary myelofibrosis are deseases without a leukemic condition. JAK2V617F is the denomination of an acquired point mutation found in the Januskinase 2 gene and associated to these pathologies. The aim of this preliminary study was to determinate the presence of JAK2V617F mutation in patient with suspected myeloproliferative disorders without leukemic condition using ARMS-PCR in the Hematopathology and Molecular Genetics Laboratory of the Instituto de Investigaciones en Ciencias de la Salud. In 64% of patients (9/14 blood samples) the mutation was detected. Detection of this mutation is useful in differential diagnosis, prognosis and therapeutic, furthermore, the assay is easy to perform and interpret. Key words: myeloproliferative disorders, JAK2V617F, ARMS-PCR.

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