JAK2 V617F mutation is associated with 5q- syndrome in Chinese

作者：Kam‐Fai Wong, Wing S. Wong, Lisa L. P. Siu, T. C. Lau, N. P. Chan · 发表于：Leukemia & lymphoma/Leukemia and lymphoma · 年份：2009 · DOI：10.1080/10428190903060103 · 被引用次数：8 · 研究领域：Myeloproliferative Neoplasms: Diagnosis and Treatment、Eosinophilic Disorders and Syndromes、Acute Myeloid Leukemia Research

JAK2 V617F mutation is mostly seen in BCR-ABLI negative myeloproliferative neoplasms. Among other myeloid neoplasms, it occurs with remarkably high frequency in refractory anemia with ring sideroblasts associated with marked thrombocytosis, a group of myeloid neoplasms with both dysplastic and proliferative features. It has also been reported in occasional cases of myelodysplastic syndrome with isolated del(5q), often with a diagnosis of refractory cytopenia with multilineage dysplasia. We performed a retrospective analysis of JAK2 V617F mutation in Chinese patients with myeloid neoplasms and isolated del(5q), and were able to demonstrate the frequent occurrence of JAK2 V617F mutation in 5q- syndrome.