RETROSPECTIVE ANALYSIS OF GENETIC MUTATION TEST RESULTS IN PATIENTS FOLLOWED WITH POLYCYCEMIA

Abstract

ABSTRACT Objective: The aim of our study is to determine breakpoints for genetic test requests in patients referred to the outpatient clinic due to polycythemia. Thus, the workload of hematology and medical genetics departments and unnecessary requests will be avoided and the cost will be reduced. Material and Methods: Our study is a retrospective cross-sectional study, including patients admitted between March 2019 and April 2021. A total of 210 patients over the age of 18 for whom genetic analysis was requested to determine the cause of polycythemia were included in the study. The information of the patients who met the research criteria was obtained retrospectively from the hospital automation system. Results: JAK2V617F mutation was found in 19 (9.09%) of 210 patients included in the study, and JAK2 exon 12 mutation was found in 1 (1.16%). Secondary polycythemia rate was 89.75%, primary polycythemia rate was 10.25%. The leukocyte count in JAK2 positive male patients and the platelet count in female patients were found to be significantly higher than in JAK2 negative patients. In general, the Hgb, Htc, creatinine and ALT values of male patients were found to be statistically significantly higher than females. In the ROC analysis for the prediction of JAK2 presence, no significant cut-off value was found for Hgb, Htc and EPO. Conclusion: We revealed that the polycythemia of patients who were requested to test for JAK2 mutation was mostly due to secondary causes. However, as a result of the ROC analysis, we saw that the Hgb and Htc cut-off values used for the JAK2 mutation request were in parallel with the limit values recommended by WHO. Therefore, it would be an effective approach to rule out secondary causes by questioning in detail before JAK2 analysis is requested. Keywords: Polycythemia, Janus Kinase 2, Polycythemia Vera

Keywords

• polycythemia, janus kinase 2, polycythemia vera

Polisitemi ile Takipli Hastalarda Genetik Mutasyon Test Sonuçlarının Retrospektif Analizi

Abstract

ÖZET Amaç: Çalışmamızın amacı, polisitemi nedeniyle polikliniğe yönlendirilen hastalarda genetik test istemleri için sınır değerler belirlemektir. Böylelikle hematoloji ve tıbbi genetik bölümlerinin iş yükü ile gereksiz istemlerin önüne geçilerek maliyet azaltılmış olacaktır. Gereç ve Yöntemler: Çalışmamız Mart 2019-Nisan 2021 tarihleri arasında başvuran hastalar dahil edilerek yapılan retrospektif kesitsel bir çalışmadır. Çalışmaya polisitemi nedeninin belirlenmesi için genetik analiz istenen 18 yaş üzeri 210 hasta dahil edilmiştir. Araştırma kriterlerine uygun hastaların bilgilerine hastane otomasyon sisteminden geriye dönük ulaşılmıştır. Bulgular: Çalışmaya alınan 210 hastanın 19’unda (%9,09) JAK2V617F mutasyonu, 1’inde (%1,16) JAK2 ekzon 12 mutasyonu saptanmıştır. Sekonder polisitemi oranı %89,75, primer polisitemi oranı %10,25 bulunmuştur. JAK2 pozitif erkek hastalarda lökosit sayısı ve kadın hastalarda trombosit sayısı, JAK2 negatif hastalara göre anlamlı olarak daha yüksek bulunmuştur. Genel olarak erkek hastaların Hgb, Htc, kreatinin, ALT değerleri kadınlara göre istatistiksel olarak anlamlı yüksek bulunmuştur. JAK2 varlığı tahmini açısından yapılan ROC analizinde Hgb, Htc ve EPO için anlamlı bir cut off değer bulunamamıştır. Sonuç: JAK2 mutasyon testi istenen hastaların polisitemisinin çoğunlukla sekonder nedenlerden kaynaklandığını ortaya koyduk. Ancak ROC analizi sonucunda JAK2 mutasyon istemi için kullanılan Hgb ve Htc cut off değerlerinin DSÖ tarafından önerilen sınır değerler ile paralel seyrettiğini gördük. Dolayısıyla JAK2 analizi istenmeden önce sekonder nedenlerin ayrıntılı sorgulanarak ekarte edilmesi etkin bir yaklaşım olacaktır. Anahtar Kelimeler: Polisitemi, Janus kinaz 2, Polisitemia Vera

Keywords

• Polisitemi
• Polisitemia Vera
• janus kinaz 2

References

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