Casanueva-Calero K, García-Menéndez G, Martínez-Echevarría MT, Díaz-López M, González-García N, Carnot-Uria J

Language: Spanish
References: 21
Page: 255-261
PDF size: 266.08 Kb.

ABSTRACT

Background: The mutation JAK2V617F constitutes an important marker to define the presence of a classic Philadelphia-negative myeloproliferative neoplasia.
Objective: To evaluate the frequency of the mutation JAK2V617F in Cuban patients with classic Philadelphia-negative myeloproliferative neoplasms.
Material and Method: A descriptive cross-sectional study was carried out from 2012 to 2018 including patients with classic Philadelphia-negative myeloproliferative neoplasms referred from the Hematology service of the Clinical and Surgical Hospital Hermanos Ameijeiras, Cuba. The detection of the mutation was carried out using an allele-specific PCR technique at the Laboratory for Molecular Genetics of this institution.
Results: Of 95 studied patients, 56 (58.9%) were positive to the mutation and 39 (41.1%) negatives. The highest frequency was found in patients with polycythemia vera (n = 33, 75%), followed by those with essential thrombocythemia (n = 22; 46.8%) and primary myelofibrosis (n = 1; 25%). The association between the frequencies of the mutation and the clinical diseases was significant (p = 0.009). The greatest percentage of patients with the mutation corresponded to males (n = 30; 53.6%), to the patients with white color of the skin (n = 40; 71.4%) and to those aged 50 years or more.
Conclusions: The frequency of the mutation JAK2V617F in Cuban patients with polycythemia vera, essential thrombocythemia or primary myelofibrosis correlates with those reported in similar studies in other population scenarios.

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