title: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions
creator: Erben, Philipp
creator: Nowak, Daniel
creator: Sauer, Christian
creator: Ströbel, Philipp
creator: Hofmann, Wolf-Karsten
creator: Hofheinz, Ralf-Dieter
creator: Hohenberger, Peter
creator: Kasper, Bernd
subject: ddc-610
subject: 610 Medical sciences Medicine
description: 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.
publisher: S. Karger AG
date: 2012
type: Article
type: info:eu-repo/semantics/article
type: NonPeerReviewed
format: application/pdf
identifier: https://archiv.ub.uni-heidelberg.de/volltextserverhttps://archiv.ub.uni-heidelberg.de/volltextserver/17825/1/ONK2012035011684.pdf
identifier: DOI:10.11588/heidok.00017825
identifier: urn:nbn:de:bsz:16-heidok-178258
identifier:   Erben, Philipp ; Nowak, Daniel ; Sauer, Christian ; Ströbel, Philipp ; Hofmann, Wolf-Karsten ; Hofheinz, Ralf-Dieter ; Hohenberger, Peter ; Kasper, Bernd  (2012) Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions.  Onkologie, 35 (11).  pp. 684-688.  ISSN 0378-584X     
relation: https://archiv.ub.uni-heidelberg.de/volltextserver/17825/
rights: info:eu-repo/semantics/openAccess
rights: http://archiv.ub.uni-heidelberg.de/volltextserver/help/license_urhg.html
language: eng