%0 Generic
%A P., Erben
%A D., Nowak
%A C., Sauer
%A P., Ströbel
%A W.-K., Hofmann
%A R.-D., Hofheinz
%A P., Hohenberger
%A B., Kasper
%D 2012
%T Supplementary Material for: Molecular Analysis of Desmoid Tumors with a High-Density Single-Nucleotide Polymorphism Array Identifies New Molecular Candidate Lesions
%U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Molecular_Analysis_of_Desmoid_Tumors_with_a_High-Density_Single-Nucleotide_Polymorphism_Array_Identifies_New_Molecular_Candidate_Lesions/5124196
%R 10.6084/m9.figshare.5124196.v1
%2 https://karger.figshare.com/ndownloader/files/8710498
%K Desmoid tumors
%K Genomic profiling
%K APC
%K CUB and Sushi multiple domains 1 (CSMD1)
%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.
%I Karger Publishers