1. bookVolume 17 (2014): Issue 1 (June 2014)
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Translocation t(3;12)(q26;q21) In Jak2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

Published Online: 11 Dec 2014
Page range: 63 - 67
Journal Details
License
Format
Journal
First Published
10 Oct 2007
Publication timeframe
2 times per year
Languages
English
Copyright
© 2020 Sciendo

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The most common chromosomal abnormalities seen in CIMF patients include numerical changes of chromosomes 7, 8 and 9, and structural changes of 1q, 5q, 13q and 20q. At least 75.0% of patients with bone marrow abnormalities have one or more of these chromosomal anomalies. Detection of the Janus kinase 2 (JAK2) mutation may be a potential major breakthrough for understanding the pathobiology of MPNs, and is an essential part of the diagnostic algorithm. In this study, we describe a JAK2V617F mutation negative CIMF patient who has the chromosomal translocation t(3;12)(q26;q21) in her karyotype.

Keywords

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