title: JAK2 V617F mutation is associated with 5q- syndrome in Chinese.
abstract: 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.
authors: Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China. kfwong@ha.org.hk
authors: K F
authors: KF
authors: Wong
authors: W S
authors: WS
authors: Wong
authors: Lisa L P
authors: LL
authors: Siu
authors: T C
authors: TC
authors: Lau
authors: N P
authors: NP
authors: Chan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000754:Anemia, Refractory, with Excess of Blasts / Q000201:enzymology / Q000235:genetics; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003062:Codon / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000201:enzymology / Q000235:genetics; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D012189:Retrospective Studies; D013577:Syndrome
chemical_list: D003062:Codon; C507924:JAK2 protein, human; D053614:Janus Kinase 2