title: Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions.
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.
  
  
  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.
  
  
  CONCLUSIONS
  The genomic alteration affecting the candidate gene CSMD1 could be important in the development of desmoid tumors.
authors.affiliation: III. Medizinische Klinik, Sarkomzentrum, ITM - Interdisziplinäres Tumorzentrum, Universitätsmedizin Mannheim, Ruprecht-Karls-Universität Heidelberg, Mannheim, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Erben
authors.forename: Daniel
authors.initials: D
authors.lastname: Nowak
authors.forename: Christian
authors.initials: C
authors.lastname: Sauer
authors.forename: Philipp
authors.initials: P
authors.lastname: Ströbel
authors.forename: Wolf-Karsten
authors.initials: WK
authors.lastname: Hofmann
authors.forename: Ralf-Dieter
authors.initials: RD
authors.lastname: Hofheinz
authors.forename: Peter
authors.initials: P
authors.lastname: Hohenberger
authors.forename: Bernd
authors.initials: B
authors.lastname: Kasper
mesh_terms: D000818:Animals; D018222:Desmoid Tumors / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology / Q000639:trends; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D009363:Neoplasm Proteins