Gülsüm ÖZET, Simten DAĞDAŞ, Funda CERAN, Osman YOKUŞ, Özlem BALCIK ŞAHİN, Tülay TAMÖZLÜ, Murat ALBAYRAK

Familial myeloproliferative diseases and Jak2 mutation: Two case reports and review of literature

Kronik miyeloproliferatif hastalıklar (KMPH); kronik miyeloid lösemi (KML), polistemia vera (PV), esansiyel trombositoz (ET), ve idiopatik miyelofibrozisi (IMF) içerir. Kronik miyeloproliferatif hastalıkların nedeni tam olarak bilinmemekte ancak hematopoetik kök hücreden köken aldıkları düşünülmektedir. Hematopoetik prekürsörlerin anormal klonal proliferasyonu ile seyrederler. Bazı ailelerde KMPH olgularının saptanması etiyolojide herediter faktörlerin de yeri olduğunu düşündürmektedir. Kliniğimizde izlediğimiz aynı aileden 2 olgu KMPH etiyopatogenezine Kronik miyeloproliferatif hastalıklar (KMPH); kronik miyeloid lösemi (KML), polistemia vera (PV), esansiyel trombositoz (ET), ve idiopatik miyelofibrozisi (IMF) içerir. Kronik miyeloproliferatif hastalıkların nedeni tam olarak bilinmemekte ancak hematopoetik kök hücreden köken aldıkları düşünülmektedir. Hematopoetik prekürsörlerin anormal klonal proliferasyonu ile seyrederler. Bazı ailelerde KMPH olgularının saptanması etiyolojide herediter faktörlerin de yeri olduğunu düşündürmektedir. Kliniğimizde izlediğimiz aynı aileden 2 olgu KMPH etiyopatogenezine katkı sağlamak amacı ile sunuma uygun bulunmuştur. Olgu 1: 69 yaşında bayan olgu, yapılan tetkikler esnasında trombositoz ve polistemi saptanması üzerine ileri araştırmalar yapıldı. Konvansiyonel sitogenetik inceleme normal olarak bulundu. FISH (Fluorescence in situ hybridization) analizinde BCR/ABL füzyonu tespit edilmedi. JAK2 V617F mutasyonu (+) saptandı. Olgu 2: 39 yaşında bayan, annesinde 1 yıl önce KMPS tespit edilen olgunun kontrol amaçlı yapılan tetkiklerinde son 2 ay içerisinde progresif olarak artan lökositoz, trombositoz ve polistemi gelişmesi üzerine ileri araştırmalar yapıldı. Lökositoz, trombositoz ve polisteminin olası sekonder nedenleri ekarte edildi. Konvansiyonel sitogenetik inceleme normal olarak bulundu.. Sonuç: Ailesel olgular sık olarak görülmese de KMPH etiyopatogenezde genetik faktörlerin sorumlu olabileceğini düşündürmektedir. Aynı zamanda çevresel faktörlerin de ailesel KMPH olgularının gelişimine katkıda bulunacağı gözden kaçırılmamalıdır.

Ailesel miyeloproliferatif sendrom: İki olgu sunumu ve literatürün gözden geçirilmesi

Chronic myeloproliferative diseases (CMD) include chronic myeloid leukemia, polycythemia vera, essential thrombocytosis and idiopathic myelofibrosis. They course with the abnormal clonal proliferation of hematopoietic precursors. The detection of CMD in some families as clusters suggests that hereditary factors play part in etiology. Here two cases from the same family who were evaluated for JAK2 mutation are presented. Case 1: In a 69 year old female, thrombocytosis and polycythaemia were established during analysis and further investigations were carried out. Conventional cytogenetic examination was found to be normal. FISH (Fluorescence in situ hybridization) analysis did not detect BCR/ABL fusion. JAK2-V617F mutation was established. Case 2: a 39 year old female whose mother was diagnosed with CMD one year ago underwent investigations for control and when progressive leukocytosis, thrombocytosis and polycythaemia developed in the last two months. With conventional cytogenetic examination, t(9,22) was established in all metaphases. BCR/ABL fusion was detected using FISH. JAK2-V1617F mutation was not detected. Conclusion: Although familial cases do not occur frequently, their presence suggests that genetic factors may play role in the etiology of CMD. In the evaluation of these two cases, the role of JAK2 mutation in familial CMD could not be shown.

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