PMID- 12494468 OWN - NLM STAT- MEDLINE DCOM- 20030206 LR - 20160303 IS - 0020-7136 (Print) IS - 0020-7136 (Linking) VI - 103 IP - 5 DP - 2003 Feb 20 TI - Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors. PG - 616-23 AB - 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. CI - Copyright 2002 Wiley-Liss, Inc. FAU - Dahlen, Anna AU - Dahlen A AD - Department of Clinical Genetics, University Hospital, Lund, Sweden. anna.dahlen@klingen.lu.se FAU - Debiec-Rychter, Maria AU - Debiec-Rychter M FAU - Pedeutour, Florence AU - Pedeutour F FAU - Domanski, Henryk A AU - Domanski HA FAU - Hoglund, Mattias AU - Hoglund M FAU - Bauer, Henrik C F AU - Bauer HC FAU - Rydholm, Anders AU - Rydholm A FAU - Sciot, Raf AU - Sciot R FAU - Mandahl, Nils AU - Mandahl N FAU - Mertens, Fredrik AU - Mertens F LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review PL - United States TA - Int J Cancer JT - International journal of cancer JID - 0042124 RN - 0 (DNA Probes) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Angiolipoma/*genetics/pathology MH - *Chromosome Deletion MH - Chromosomes, Artificial, Yeast/genetics MH - Chromosomes, Human, Pair 13/*genetics MH - DNA Probes MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Lipoma/classification/*genetics/pathology MH - Liposarcoma/*genetics/pathology MH - Male MH - Middle Aged MH - Translocation, Genetic RF - 34 EDAT- 2002/12/21 04:00 MHDA- 2003/02/07 04:00 CRDT- 2002/12/21 04:00 PHST- 2002/12/21 04:00 [pubmed] PHST- 2003/02/07 04:00 [medline] PHST- 2002/12/21 04:00 [entrez] AID - 10.1002/ijc.10864 [doi] PST - ppublish SO - Int J Cancer. 2003 Feb 20;103(5):616-23. doi: 10.1002/ijc.10864.