%0 Journal Article
%@ 0378-584X
%A Erben, Philipp
%A Nowak, Daniel
%A Sauer, Christian
%A Ströbel, Philipp
%A Hofmann, Wolf-Karsten
%A Hofheinz, Ralf-Dieter
%A Hohenberger, Peter
%A Kasper, Bernd
%D 2012
%F heidok:17825
%I S. Karger AG
%J Onkologie
%N 11
%P 684-688
%R 10.11588/heidok.00017825
%T Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions
%U https://archiv.ub.uni-heidelberg.de/volltextserver/17825/
%V 35
%X 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.