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Clustering of delet...
Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
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- Dahlén, Anna (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Debiec-Rychter, Maria (author)
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Pedeutour, Florence (author)
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- Domanski, Henryk A (author)
- Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Höglund, Mattias (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Bauer, Henrik C F (author)
- Karolinska Institutet
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- Rydholm, Anders (author)
- Lund University,Lunds universitet,Ortopedi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ortopedisk sarkomforskning,Forskargrupper vid Lunds universitet,Orthopaedics (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Orthopaedic Sarcoma Research,Lund University Research Groups
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Sciot, Raf (author)
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- Mandahl, Nils (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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- Mertens, Fredrik (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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(creator_code:org_t)
- 2002-12-06
- 2003
- English 8 s.
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In: International Journal of Cancer. - : Wiley. - 0020-7136. ; 103:5, s. 616-623
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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
Publication and Content Type
- art (subject category)
- ref (subject category)
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Dahlén, Anna
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Debiec-Rychter, ...
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Pedeutour, Flore ...
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Domanski, Henryk ...
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Höglund, Mattias
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Bauer, Henrik C ...
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Rydholm, Anders
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Sciot, Raf
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Mandahl, Nils
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Mertens, Fredrik
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- MEDICAL AND HEALTH SCIENCES
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Lund University
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Karolinska Institutet