Polistemia Vera Hastalarında Jak2 V617f Allel Yükünün Klinik Fenotipe Etkisinin Araştırılması

Abstract

Amaç: Polistemi Vera JAK2 V617F mutasyon pozitif hastalarda allel yükü farklılıklarının klinik ve laboratuvar olarak hastalığın ciddiyetini etkileyip etkilemediğinin ortaya konması amaçlanmıştır. Yöntem: Bu çalışmada, 01.01.2018-31.12.2022 tarihleri arasında Tıbbi Genetik Anabilim Dalı'na Polistemia Vera tanısıyla başvuran ve JAK2 V617F mutasyonu allel yükü %1'in üzerinde olan, 79 hasta dahil edildi. Hastalar allel yükü yüzdelerine göre dörtlü (0-25, 26-50, 51-75, 76-100) ve ikili (0-50, 51-100) gruplara ayrıldı. JAK2 V617F mutasyon allel yükü ile klinik ve laboratuvar verileri arasındaki ilişki istatistiksel olarak karşılaştırıldı Bulgular: Hastaların 55'i Erkek (%70), 24'ü Kadın (%30) idi. Hastaları JAK2 V617F mutasyon allel yüküne değerlendirdiğimizde 29 hasta Grup 1'de (%0-25), 26 hasta Grup 2'de (%26-50), 14 hasta Grup 3'te (%51-75), 10 hasta ise Grup 4'te (%76-100) yer almaktaydı. JAK2 V617F mutasyonu allel yüküne göre oluşturulan ikili gruplar arasında klinik parametreler açısından anlamlı bir fark saptanmamıştır(p>0,05). JAK2 V617F mutasyonu allel yükü ile lökosit (r=0.419, p<0.01), bazofil (r=0.371, p<0.01), nötrofil (r=0.466, p<0.01) değerleri arasında orta düzeyde pozitif, LDH (r=0.534, p<0.05) değerleriyle güçlü pozitif korelasyon saptanmıştır. JAK2 V617F mutasyonu allel yükü ile hastaların yaşları arasında orta düzeyde pozitif korelasyon saptanmıştır (r=0.399, p<0.01). Sonuç: Çalışmamızda PV hastaların ileri yaş hastalığı olduğu görülmektedir. Mutasyon allel yükü yüksek olan hastalarda daha yüksek lökosit, bazofil, nötrofil ve LDH görülmektedir. Tromboz ve fibrozise ile mutasyon allel yükü ilişkisi gözlenmemiştir.Objective: It was aimed to determine whether differences in allele burden affect the severity of the disease clinically and laboratory in polystema Vera JAK2 V617F mutation-positive patients. Method: In the power analysis conducted for the study, which was planned as a retrospective file scan, the minimum number of samples was calculated as 47 at d=2.1, sd=4.3 80% power and 0.05 significance level. Among the patients with a diagnosis of PV who applied to the Department of Medical Genetics between 01.01.2018 and 31.12.2022, there were 79 patients over the age of 18 who were positive for JAK2 V617F mutation, had positive allele percentage above 1%, had clinical and laboratory findings in the file and gave consent for the study. The patient was selected for the study. The clinical and laboratory findings of these patients and the results of the mutation allele burden percentage were scanned retrospectively from the nuclear patient information system and the file archive of the medical genetics department. Statistical analysis of the obtained information was calculated with the SPSS program. The age, gender, place of residence and laboratory values of the patients included in the study at the time of diagnosis were evaluated. Results: 55 patients were male (70%) and 24 were female (30%). When we evaluated the patients according to JAK2 V617F mutation allele burden, 29 patients were in Group 1 (0-25%), 26 patients were in Group 2 (26-50%), 14 patients were in Group 3 (51-75%) and 10 patients were in Group 4 (76-100%). There was no significant difference in clinical parameters between the binary groups formed according to JAK2 V617F mutation allelic burden (p>0.05). There was a moderate positive correlation between JAK2 V617F mutation allelic burden and leukocyte (r=0.419, p<0.01), basophil (r=0.371, p<0.01) and neutrophil (r=0.466, p<0.01) values and a strong positive correlation with LDH (r=0.534, p<0.05) values. A moderate positive correlation was found between JAK2 V617F mutation allelic burden and age of the patients (r=0.399, p<0.01). Conclusion: Polycythemia vera is mainly a disease of advanced age and is more common in men. In our study, most of the patients were over 50 years old and male patients were in the majority, which is consistent with the literature.