Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors

Summary, in English

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.

• Författare: Anna Dahlén; Maria Debiec-Rychter; Florence Pedeutour; Henryk A Domanski; Mattias Höglund; Henrik C F Bauer; Anders Rydholm; Raf Sciot; Nils Mandahl; Fredrik Mertens
• Avdelning/ar: Avdelningen för klinisk genetik; Tumörmikromiljö; Bröstcancer-genetik; Ortopedi, Lund; Ortopedisk sarkomforskning
• Publiceringsår: 2003-02-20
• Språk: Engelska
• Sidor: 616-623
• Publikation/Tidskrift/Serie: International Journal of Cancer
• Volym: 103
• Issue: 5
• Länkar: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12494468&dopt=Abstract; http://dx.doi.org/10.1002/ijc.10864
• Dokumenttyp: Artikel i tidskrift
• Förlag: John Wiley & Sons Inc.
• Ämne: Cancer and Oncology
• Nyckelord: Adult; Aged; Aged, 80 and over; Angiolipoma; Chromosome Deletion; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 13; DNA Probes; Female; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Lipoma; Liposarcoma; Male; Middle Aged; Translocation, Genetic; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review
• Status: Published
• Forskningsgrupp: Orthopaedic Sarcoma Research
• ISBN/ISSN/Övrigt: ISSN: 0020-7136