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: K F Wong, W S Wong, Lisa L P Siu, T C Lau, N P Chan
• Journal: Leukemia & lymphoma (Leuk Lymphoma) Vol. 50 Issue 8 Pg. 1333-5 (Aug 2009) ISSN: 1029-2403 [Electronic] United States
• PMID: 19562618 (Publication Type: Journal Article)

Chemical References

• Codon
• JAK2 protein, human
• Janus Kinase 2

Topics

• Adult
• Aged
• Aged, 80 and over
• Anemia, Refractory, with Excess of Blasts (enzymology, genetics)
• Chromosome Deletion
• Chromosomes, Human, Pair 5 (genetics)
• Codon (genetics)
• Disease Progression
• Female
• Hong Kong (epidemiology)
• Humans
• Janus Kinase 2 (genetics)
• Karyotyping
• Leukemia, Myeloid, Acute (enzymology, genetics)
• Middle Aged
• Myelodysplastic Syndromes (enzymology, genetics)
• Point Mutation
• Retrospective Studies
• Syndrome