A Rare Entity in Chronic Myelocytic Leukemia: Coexistence of BCR ABL1 Translocation and JAK2 V617F Mutation. Case Report
SN Comprehensive Clinical Medicine, cilt.2, sa.4, ss.478-480, 2020 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 2 Sayı: 4
- Basım Tarihi: 2020
- Doi Numarası: 10.1007/s42399-020-00252-w
- Dergi Adı: SN Comprehensive Clinical Medicine
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.478-480
- Anahtar Kelimeler: BCR ABL1, CML, Imatinib, JAK-2 V617F, Myeloproliferative disorders
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Myeloproliferative neoplasms (MPNs) are diseases of myeloid series usually with an increase in peripheral blood cells. Among this disease group, only chronic myeloid leukemia (CML) has t(9; 22) (Philadelphia chromosome) leading to the production of BCR-ABL1 fusion gene with tyrosine kinase activity. The main distinction between the diagnosis and treatment of this heterogeneous group is the presence of BCR-ABL1 or JAK-2 V617F mutation. The coexistence of these two mutations may be observed, although not frequently, and can lead to delay in the diagnosis. The case here presents the detection and clinical management of JAK-2 V617F mutation after the suspicion of other MPNs due to fluctuations in clinical and hematological responses of this rare entity in a 78-year-old female patient with CML. To the best of our knowledge, this is the first CML case with coexistence of BCR-ABL1 translocation and JAK2 V617F mutation from Turkey.