Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions
Background: Desmoid tumors are neoplastic proliferations of connective tissues. The mutation status of the gene coding for catenin (cadherin-associated protein) beta 1 (CTNNB1) and trisomy 8 on the chromosomal level have been described to have prognostic relevance. Patients and methods: In order to...
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| Autores principales: | , , , , , , , |
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| Formato: | Article (Journal) |
| Lenguaje: | inglés |
| Publicado: |
October 22, 2012
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| In: |
Onkologie
Year: 2012, Volumen: 35, Número: 11, Pages: 684-688 |
| ISSN: | 1423-0240 |
| DOI: | 10.1159/000343744 |
| Acceso en línea: | Verlag, Pay-per-use, Volltext: http://dx.doi.org/10.1159/000343744 Verlag, Pay-per-use, Volltext: https://www.karger.com/Article/FullText/343744 
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| Notas de Autor: | Philipp Erben, Daniel Nowak, Christian Sauer, Philipp Ströbel, Wolf-Karsten Hofmann, Ralf-Dieter Hofheinz, Peter Hohenberger, Bernd Kasper |
| Sumario: | Background: Desmoid tumors are neoplastic proliferations of connective tissues. The mutation status of the gene coding for catenin (cadherin-associated protein) beta 1 (CTNNB1) and trisomy 8 on the chromosomal level have been described to have prognostic relevance. Patients and methods: In order to elucidate new molecular mechanisms underlying these tumors, we carried out a molecular analysis with a genome-wide human high-density single-nucleotide polymorphism (SNP) array, in 9 patients. Results: Single samples showed numerical aberrations on chromosomes (Chrs) 20 and 6 with either trisomy 20 or monosomy 6. No trisomy 8 could be detected. Recurrent heterozygous deletions were found in Chr 5q (including the APC gene locus, n = 3) and Chr 8p23 (n = 4, containing coding regions for the potential tumor suppressor gene CSMD1). This novel deletion in 8p23 showed an association with local recurrence. In addition, structural chromosomal changes (gain of Chrs 8 and 20) were found in a minority of cases. Conclusion: The genomic alteration affecting the candidate gene CSMD1 could be important in the development of desmoid tumors. |
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| Notas: | Gesehen am 29.11.2018 |
| Descripción Física: | Online Resource |
| ISSN: | 1423-0240 |
| DOI: | 10.1159/000343744 |