Title: Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
Authors: Dahlén, Anna ×
Debiec-Rychter, Maria
Pedeutour, Florence
Domanski, Henryk A
Höglund, Mattias
Bauer, Henrik C F
Rydholm, Anders
Sciot, Raphael
Mandahl, Nils
Mertens, Fredrik #
Issue Date: Dec-2003
Publisher: Wiley-Liss
Series Title: International Journal of Cancer vol:103 issue:5 pages:616-623
Abstract: Deletions and structural rearrangements of the long arm of chromosome 13 are frequently observed in benign and low-malignant lipomatous tumors, but nothing is known about their molecular genetic consequences. We assessed the karyotypes of 40 new and 22 previously published cases (35 ordinary lipomas, 15 spindle cell/pleomorphic lipomas, 2 myxolipomas, 1 angiomyxolipoma and 9 atypical lipomatous tumors) with chromosome 13-abnormalities, and found bands 13q12-22 to be frequently affected. Twenty-seven cases with structural abnormalities within this region were selected for breakpoint and deletion mapping by metaphase fluorescence in situ hybridization (FISH), using a set of 20 probes. Deletions were found in 23 of 27 cases. The remaining 4 cases had seemingly balanced rearrangements. The breakpoints were scattered but clustered to band 13q14, and in all cases with unbalanced abnormalities, a limited region within band 13q14 was partially or completely deleted. A deletion within band 13q14 was found together with a breakpoint on the other homologue in 5 cases, 4 of which could be tested further with regard to the status of the retinoblastoma (RB1)-gene. In all 4 cases, only 1 copy of the gene was deleted. In addition to the breaks and deletions in the vicinity of the RB1-locus, several other regions of 13q were recurrently affected, e.g., in the vicinity of the hereditary breast cancer (BRCA2; 13q12)- and lipoma HMGIC fusion partner (LHFP; 13q13)- genes. Our findings strongly indicate that deletion of a limited region (approximately 2.5 Mbp) within 13q14, distal to the RB1-locus, is of importance in the development of a subset of lipomatous tumors.
ISSN: 0020-7136
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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