Document Detail

Gains on 9p are common genomic aberrations in idiopathic myelofibrosis: a comparative genomic hybridization study.
MedLine Citation:
PMID:  15801957     Owner:  NLM     Status:  MEDLINE    
Ideopathic myelofibrosis (IMF) is a chronic myeloproliferative disorder resulting in bone marrow fibrosis as a consequence of growth factor release from clonal haematopoiesis. Conventional cytogenetic analysis identifies abnormalities in approximately a third of cases at diagnosis, although rarely uncovers unique, primary genetic events. We have used comparative genomic hybridization (CGH) to study 25 IMF cases and have compared the results with conventional cytogenetics. Metaphase cells were available for analysis in 13 cases, of which seven showed an abnormal karyotype. CGH chromosomal profiles showed imbalances in 21 of 25 cases. The most frequent aberrations were gains of 9p (12 cases), 2q (seven cases), 3p (seven cases), chromosome 4 (seven cases), 12q (seven cases), 13q (eight cases). The main losses were at 17q and occurred in six cases. The results for CGH and cytogenetics were matched for one case only. Investigation of IMF by CGH suggests that genomic aberrations are much more common than has been previously indicated by conventional cytogenetic analysis and occur in the majority of cases. Gains of 9p were the most frequent finding, occurring in 50% of patients and suggests that genes on 9p may play a crucial role in the pathogenesis of IMF.
O Al-Assar; A Ul-Hassan; R Brown; G A Wilson; D W Hammond; J T Reilly
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  British journal of haematology     Volume:  129     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-04-01     Completed Date:  2005-09-30     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  66-71     Citation Subset:  IM    
Institute for Cancer Studies, Division of Genomic Medicine, Medical School, University of Sheffield, Sheffield, UK.
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MeSH Terms
Aged, 80 and over
Chromosome Aberrations*
Chromosomes, Human, Pair 9 / genetics*
Middle Aged
Nucleic Acid Hybridization / methods
Primary Myelofibrosis / genetics*
Reproducibility of Results

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