2009.07.24 – JAK2 V617F mutation is associated with 5q- syndrome in Chinese

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2009.07.24 – JAK2 V617F mutation is associated with 5q- syndrome in Chinese

Authors: K. F. Wong a;  W. S. Wong a;  Lisa L. P. Siu a;  T. C. Lau a; N. P. Chan b

Affiliations:    a Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China

b Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Hong Kong SAR, China
DOI: 10.1080/10428190903060103

Published in: Leukemia and Lymphoma, Volume 50, Issue 8 August 2009 , pages 1333 – 1335

First Published: August 2009

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.

Keywords: 5q-syndrome; JAK2; myeloid leukemias; dysplasias

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