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

Dahlén, Anna LU ; Debiec-Rychter, Maria; Pedeutour, Florence; Domanski, Henryk A LU ; Höglund, Mattias LU ; Bauer, Henrik C F; Rydholm, Anders LU ; Sciot, Raf; Mandahl, Nils LU and Mertens, Fredrik LU (2003) In International Journal of Cancer 103(5). p.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... (More)

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.

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keywords
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
in
International Journal of Cancer
volume
103
issue
5
pages
8 pages
publisher
John Wiley & Sons
external identifiers
  • wos:000180369900007
  • scopus:0037455805
ISSN
0020-7136
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language
English
LU publication?
yes
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669bf37d-22de-4ff5-8acd-1bb8f14221c7 (old id 112403)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12494468&dopt=Abstract
date added to LUP
2007-07-03 10:58:21
date last changed
2018-06-10 03:40:49
@article{669bf37d-22de-4ff5-8acd-1bb8f14221c7,
  abstract     = {<p>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.</p>},
  author       = {Dahlén, Anna and Debiec-Rychter, Maria and Pedeutour, Florence and Domanski, Henryk A and Höglund, Mattias and Bauer, Henrik C F and Rydholm, Anders and Sciot, Raf and Mandahl, Nils and Mertens, Fredrik},
  issn         = {0020-7136},
  keyword      = {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},
  language     = {eng},
  month        = {02},
  number       = {5},
  pages        = {616--623},
  publisher    = {John Wiley & Sons},
  series       = {International Journal of Cancer},
  title        = {Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors},
  url          = {http://dx.doi.org/},
  volume       = {103},
  year         = {2003},
}