MPH Hastalarında JAK2 F617 Allel Yükü ile Hematolojik Parametrelerin İlişkisi

Abstract

Amaç: JAK2 genindeki bir nokta mutasyonu, fenilalanin yerine valinin geçmesi (JAK2 V617F) ile sonuçlanmakla beraber, polisitemi vera, esansiyel trombositemi, idiyopatik miyelofibroz, miyelodisplastik sendromlar, kronik miyelomonositik lösemi, sistemik mastositoz, kronik nötrofilik lösemi ve eozinofilik bozukluklar gibi miyeloproliferatif bozukluklarla ilişkilendirilmiştir. Gereç ve Yöntemler: Miyeloproliferatif bozukluk tanılı hastalarda JAK2 V617F mutasyonu alel yükü qPCR yöntemi ile incelenmiştir. F617 aleli, %50'den az ve fazla mutasyon yükü gruplarını içeren standart bir kalibrasyon eğrisi kullanılarak hesaplanmıştır. Bulgular: Yabanıl tip (wt), %50'den fazla ve düşük gruplar arasında eritrosit, hematokrit, trombosit ve lökosit düzeyleri açısından anlamlı bir ilişki bulundu. Wt ve %50'den fazla gruplar arasında hemoglobin düzeyleri açısından istatistiksel olarak anlamlı bir ilişki bulunmuştur. Mutasyonel yük artışının trombosit düzeyleri hariç eritrosit, hematokrit ve lökosit düzeylerini indüklediği gösterilmiştir. Sonuç: Miyeloproliferatif bozukluğu olan hastalarda JAK2 gen mutasyonunun rutin taraması endike olarak görünmektedir.

Keywords

• JAK2
• miyeloproliferatif hastalıklar
• qPCR
• V617F

ASSOCIATION OF JAK2 F617 ALLELE BURDEN WITH HEMATOLOGICAL PARAMETERS IN MPD PATIENTS

Abstract

Objective: A point mutation in the JAK2 gene, resulting in the substitution of valine for phenylalanine (JAK2 V617F), has been associated with myeloproliferative disorders such as polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis, myelodysplastic syndromes, chronic myelomonocytic leukemia, systemic mastocytosis, chronic neutrophilic leukemia, and eosinophilic disorders. Material and Methods: The relation of JAK2 V617F mutation has been studied in myeloproliferative disorder patients by qPCR. The F617 allele was calculated using a standard calibration curve, including less and more than 50% mutational load groups. Results: A significant relation was found among wild type (wt), less and more than 50% groups, Regarding erythrocyte, hematocrit, platelet, and leukocyte levels. A statistically significant relation was found between wt and more than 50% of groups regarding hemoglobin levels. The mutational load increase has been shown to induce erythrocyte, hematocrit, and leukocyte levels, except platelet levels. Conclusion: In patients with myeloproliferative disorders, qPCR screening of JAK2 gene mutation is indicated.

Keywords

• JAK2
• myeloproliferative disorders
• qPCR
• V617F

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