eprintid: 17825
rev_number: 25
eprint_status: archive
userid: 1329
dir: disk0/00/01/78/25
datestamp: 2015-01-12 14:09:54
lastmod: 2016-01-09 21:17:13
status_changed: 2015-01-12 14:09:54
type: article
metadata_visibility: show
creators_name: Erben, Philipp
creators_name: Nowak, Daniel
creators_name: Sauer, Christian
creators_name: Ströbel, Philipp
creators_name: Hofmann, Wolf-Karsten
creators_name: Hofheinz, Ralf-Dieter
creators_name: Hohenberger, Peter
creators_name: Kasper, Bernd
title: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions
subjects: ddc-610
divisions: i-61200
divisions: i-62400
divisions: i-62900
divisions: i-63100
abstract: 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.
date: 2012
publisher: S. Karger AG
id_scheme: DOI
id_number: 10.11588/heidok.00017825
ppn_swb: 1655567799
own_urn: urn:nbn:de:bsz:16-heidok-178258
language: eng
bibsort: ERBENPHILIMOLECULARA2012
full_text_status: public
publication: Onkologie
volume: 35
number: 11
pagerange: 684-688
issn: 0378-584X
citation:   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     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/17825/1/ONK2012035011684.pdf