Özet:

OBJECTIVE: JAK2V617F mutation positivity is the main criterion for the diagnosis of chronic myeloproliferative neoplasms (CMPN). Determination of allele burden has become a standard diagnostic procedure in most molecular laboratories, but no cutoff value is specified for the diagnosis of CMPN. Herein, comparison of myeloproliferative neoplasia prediagnosed patients with low and high JAK2V617F allele burden in terms of clinical and hematological parameters were aimed. MATERIAL AND METHODS: Ninty-five patients with positive JAK2V617F mutation in the Medical Genetics Clinic of Health Sciences University Antalya Training and Research Hospital between 2019-2021 were analyzed retrospectively. RESULTS: Sixty four percent of 46 patients with low allele burden (≤3%) had the CMPN phenotype, while 100% of 49 patients with high allele burden (>3%) had the CMPN phenotype. There was no statistically significant difference between the two groups in terms of erythrocyte count, hemoglobin level, and mean erythrocyte volumes, however leukocyte, neutrophil and platelet elevations were found to be statistically significant in favor of the group with JAK2V617F allele burden >3% (p=0.007; p<0.001; p<0.001). CONCLUSIONS: Although the low allele burden JAK2V617F mutation is difficult to interpret in daily clinical practice, not all positive patients have a hematological diagnosis. All patients with an allele burden >3% were diagnosed with CMPN; therefore, an allele burden above this limit can be considered as an indicator of the presence of a myeloproliferative disease. Studies with larger patient cohorts prospectively examined using standardized molecular methods are needed to define the approach to the low allele burden JAK2V617F mutation.

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