JAK2 V617F mutation in cases with chronic myeloproliferative disorders and myelodysplastic syndrome
Journal Name:
- Gülhane Tıp Dergisi
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Keywords (Original Language):
Abstract (2. Language):
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.
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Abstract (Original Language):
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 altı-
sında (%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 ayı-
rıcı tanısında önemli olarak görünmektedir.
FULL TEXT (PDF):
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