AI Summary & Key Takeaways
AI InsightAs a result, determination of the JAK2 V617F mutation seems to be important in patients suspected to have chronic myeloproliferative disease, especially in the differential diagnosis of polycythemia vera and secondary polycythemia.
📌 3 Key Takeaways
Abstract
JAK2 gene V617F mutation is reportedly important in chronic myeloproliferative diseases. In this study results of JAK2 V617F mutation in cases with chronic myeloproliferative disease and myelodysplastic syndrome are presented. The study was conducted with 22 patients diagnosed to have chronic myeloproliferative disease and myelodysplastic syndrome (seven polycythemia vera, three essential thrombocythemia, three chronic myelocytic leukemia, five unclassified chronic myeloproliferative disease, three myelodysplastic syndrome and one juvenile myelomonocytic leukemia) and with 10 control cases (seven secondary erytrocytosis and three reactive thrombocythosis). The mutation was detected in six out of seven polycythemia vera cases (85.7%). No mutation was detected in seven cases with secondary erytrocytosis. In one out of the three essential thrombocythemia cases (33.3%), the mutation was detected. No mutation was found in three cases with reactive thrombocythosis and in three cases with chronic myelocytic leukemia. In one out of five cases with unclassified chronic myeloproliferative disease (20%), the JAK2 V617F mutation was positive. No mutation was detected in three cases with myelodysplastic syndrome and juvenile myelomonocytic leukemia. As a result, determination of the JAK2 V617F mutation seems to be important in patients suspected to have chronic myeloproliferative disease, especially in the differential diagnosis of polycythemia vera and secondary polycythemia.
Özet
Kronik miyeloproliferatif hastalıklarda JAK2 geni V617F mutasyonunun önemli olduğu bildirilmiştir. Çalışmamızda kronik miyeloproliferatif hastalık ve miyelodisplastik sendromlu olgularda JAK2 V617F mutasyon sonuçları sunulmaktadır. Çalışma kronik miyeloproliferatif hastalık ve miyelodisplastik sendrom tanısı konulan 22 olgu (yedi polisitemia vera, üç esansiyel trombositemi, üç kronik miyelositer lösemi, beş sınıflandırılamayan tip kronik miyeloproliferatif hastalık, üç miyelodisplastik sendrom ve bir juvenil miyelomonositik lösemi) ile 10 kontrol olgusunda (yedi sekonder eritrositoz ve üç reaktif trombositoz) gerçekleştirildi. Yedi polisitemia veralı olgudan altısında (%85.7) mutasyon tespit edildi. Yedi sekonder eritrositoz olgusunda mutasyon tanımlanmadı. Üç esansiyel trombositemi olgusundan birisinde (%33.3) mutasyon bulundu. Üç reaktif trombositoz olgusunda ve üç kronik miyelositer lösemi olgusunda mutasyon bulunmadı. Beş sınıflandırılamayan tip kronik miyeloproliferatif hastalık olgusundan birisinde (%20) JAK2 V617F mutasyonu saptandı. Üç miyelodisplastik sendromlu olgu ile juvenil miyelomonositik lösemili olguda mutasyon gösterilmedi. Sonuç olarak, JAK2 V617F mutasyonunun araştırılması kronik miyeloproliferatif hastalık düşünülen olgularda özellikle polistemia vera ile sekonder polisteminin ayırıcı tanısında önemli olarak görünmektedir.