JAK2 V617F mutation is associated with 5q- syndrome in Chinese.
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.
Wong
K F
KF
Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China. kfwong@ha.org.hk
Wong
W S
WS
Siu
Lisa L P
LL
Lau
T C
TC
Chan
N P
NP
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
D003062:Codon; C507924:JAK2 protein, human; D053614:Janus Kinase 2