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Molecular analysis of desmoid tumors with a high-density single-nucleotide polymorphism array identifies new molecular candidate lesions

Erben, Philipp ; Nowak, Daniel ; Sauer, Christian ; Ströbel, Philipp ; Hofmann, Wolf-Karsten ; Hofheinz, Ralf-Dieter ; Hohenberger, Peter ; Kasper, Bernd

In: Onkologie, 35 (2012), Nr. 11. pp. 684-688. ISSN 0378-584X

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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.

Item Type: Article
Journal or Publication Title: Onkologie
Volume: 35
Number: 11
Publisher: S. Karger AG
Date Deposited: 12 Jan 2015 14:09
Date: 2012
ISSN: 0378-584X
Page Range: pp. 684-688
Faculties / Institutes: Medizinische Fakultät Mannheim > Chirurgische Klinik
Medizinische Fakultät Mannheim > Medizinische Klinik - Lehrstuhl für Innere Medizin III
Medizinische Fakultät Mannheim > Pathologisches Institut MA
Medizinische Fakultät Mannheim > Urologische Klinik
Subjects: 610 Medical sciences Medicine
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