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Gain of Xq detected by comparative genomic hybridization in elastofibroma

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Elastofibroma is a rare, benign, slow-growing degenerative pseudotumor that typically occurs in the subscapular region and has been considered a peculiar fibroblastic proliferation with accumulation of abnormal elastic fibers. Very little is known about the cytogenetic and molecular genetic changes in elastofibroma. In the present study, we analyzed DNA copy number changes in 27 elastofibromas by comparative genomic hybridization. DNA was extracted from 22 archival paraffin-embedded tumor tissues and from 5 fresh frozen samples. Nine (33%) of the 27 cases exhibited DNA copy number changes involving one or two chromosomes, whereas the remaining 18 cases exhibited no DNA copy number changes. The majority of the changes were gains (8 cases), whereas 2 cases showed losses. The most common recurrent gains were at chromosomal locations Xq12-q22 (6 cases) and 19 (2 cases). High-level amplifications and recurrent losses were not observed. There was no correlation between DNA copy number changes and the pseudotumor size. The present study has identified a chromosomal region that may contain genes involved in the development of at least some elastofibromas.
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Document Type: Research Article

Affiliations: Department of Pathology, School of Medicine, Fukuoka University, Jonan-ku, Fukuoka 814-0180, Japan., Email: [email protected]

Publication date: January 1, 2002

More about this publication?
  • The International Journal of Molecular Medicine is a monthly, peer-reviewed journal devoted to the publication of high quality studies related to the molecular mechanisms of human disease. The journal welcomes research on all aspects of molecular and clinical research, ranging from biochemistry to immunology, pathology, genetics, human genomics, microbiology, molecular pathogenesis, molecular cardiology, molecular surgery and molecular psychology.

    The International Journal of Molecular Medicine aims to provide an insight for researchers within the community in regard to developing molecular tools and identifying molecular targets for the diagnosis and treatment of a diverse number of human diseases.
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