Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
(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.
(Less)
- author
- 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
- organization
- publishing date
- 2003-02-20
- type
- Contribution to journal
- publication status
- published
- subject
- 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 Inc.
- external identifiers
-
- wos:000180369900007
- scopus:0037455805
- pmid:12494468
- ISSN
- 0020-7136
- DOI
- 10.1002/ijc.10864
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Division of Clinical Genetics (013022003), Pathology, (Lund) (013030000), Department of Orthopaedics (Lund) (013028000)
- id
- 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
- 2016-04-01 11:46:04
- date last changed
- 2022-01-26 17:56:43
@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}},
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}},
language = {{eng}},
month = {{02}},
number = {{5}},
pages = {{616--623}},
publisher = {{John Wiley & Sons Inc.}},
series = {{International Journal of Cancer}},
title = {{Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors}},
url = {{http://dx.doi.org/10.1002/ijc.10864}},
doi = {{10.1002/ijc.10864}},
volume = {{103}},
year = {{2003}},
}