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Essential thrombocythemia with deleted 5q--a genetic and morphologic hybrid?
Kit Fai Wong1, Pui Hung Yu, Wai Shan Wong
1Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, China. kfwong@ha.org.hk
Abstract:
A 66-year-old man who presented with progressive and marked thrombocytosis but normal hemoglobin was diagnosed to have essential thrombocythemia upon the demonstration of JAK2 V617F mutation. Bone marrow examination, however, showed the presence of monolobulated megakaryocytes and conventional cytogenetic analysis revealed an isolated interstitial deletion of the long arm of chromosome 5, characteristic of 5q- syndrome. A literature review indicated that isolated deletion of 5q is uncommon in essential thrombocythemia but that, when this isolated deletion is present, the disease often shows mixed features of both essential thrombocythemia and 5q- syndrome.
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