Blood Cells Mol Dis. 2026 Jun 6;120:103022. doi: 10.1016/j.bcmd.2026.103022. Online ahead of print.
ABSTRACT
BACKGROUND: Polycythemia vera (PV) is a chronic myeloproliferative neoplasm characterized by the clonal proliferation of hematopoietic stem cells, primarily driven by JAK2 mutations. Even though there are established diagnostic and therapeutic standards, there is not a lot of information about the clinical and molecular features of PV in Latin America. Our aim was to characterize the demographic, clinical, hematological, and treatment characteristics of patients with polycythemia vera at a specialized hematology/oncology center in southern Colombia.
METHODS: We conducted a retrospective cohort analysis involving patients aged 18 years and older diagnosed with polycythemia vera at Hemato Oncólogos S.A. and Clínica Imbanaco in Cali, Colombia, from July 2015 to July 2023. We looked at 59 consecutive medical records to get demographic information, JAK2 mutational status, hematologic parameters, initial treatment, relapse reasons, and outcomes. We used descriptive statistics and compared groups using the Chi-square/Fisher’s exact test for categorical variables and the Student’s t-test, ANOVA, or non-parametric alternatives for continuous variables. A p-value under 0.05 was considered statistically significant.
RESULTS: There were 59 patients in all, with a slight male majority (50.8%) and an average age of 70.1 ± 12.3 years; the average age at diagnosis was 60.1 ± 11.3 years. In 61.0% of patients, JAK2 mutations were found, and in 81.4% of patients, the risk was high. The average hemoglobin level upon diagnosis was 17.2 ± 2.9 g/dL, but by the last follow-up, it had dropped to 14.4 ± 2.6 g/dL. The main treatments were acetylsalicylic acid plus hydroxyurea (32.2%) or phlebotomy (28.8%). During the follow-up period (mean 0.9 ± 3.6 years), 37.3% of individuals experienced recurrence, sometimes requiring an increase in treatment to hydroxyurea or ruxolitinib. The overall death rate was 15.3%. No statistically significant differences were seen between patients who survived and those who died concerning baseline hemoglobin, age, JAK2 status, or therapeutic mode.
CONCLUSION: This study provides one of the first extensive characterizations of PV in southern Colombia, confirming internationally recognized clinical features, including advanced age at diagnosis, increased prevalence of cardiovascular comorbidities, and a predominance of high-risk classification. The low rate of finding JAK2 mutations suggests that molecular testing may not be as easy to get as it could be. Even if the treatment followed the guidelines, the risk of recurrence and thrombosis remained, showing that PV is a long-term and worsening condition. These findings highlight the urgent need to expand access to molecular diagnostics, develop tailored risk-adapted medicines, and initiate prospective multicenter studies in Latin America to optimize outcomes and quality of life in PV.
PMID:42275722 | DOI:10.1016/j.bcmd.2026.103022