Introduction:

The frequency of the JAK2V617F mutation is estimated to be between 50 % and 60 % in patients with essential thrombocythemia and primary myelofibrosis. 30 % of patients with polycythemia vera and primary myelofibrosis and 2-4 % of patients with essential thrombocythemia show loss of heterozygosity.

Objectives:

To evaluate the influence of the allelic load of the JAK2V617F mutation in the diagnosis of these diseases in Cuban patients and its relationship with clinical-hematological variables.

Methodology:

A retrospective, descriptive and longitudinal study was carried out at the Institute of Hematology and Immunology between 2010 and 2020. All patients with suspected essential thrombocythemia and primary myelofibrosis with valid DNA samples were included. The allelic load of the mutation was quantified by real-time PCR.

Results:

The mutation was detected in 66.7 % of those diagnosed with essential thrombocythemia and primary myelofibrosis. 62.5 % of the patients with primary myelofibrosis were homozygous for the mutation, while in essential thrombocythemia only 20.8 %. The difference in mean allelic loads between both diseases was statistically significant. No significant differences were found in the comparison of clinical and hematological variables in these diseases or association with allelic load, with the exception of platelets in primary myelofibrosis.

Conclusions:

The study was limited by the small sample of patients, but it corresponds to other investigations that support the concept that the phenotypic presentation of myeloproliferative neoplasms is influenced by the mutational load of JAK2V617F.

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