Supplementary Material for: Molecular Analysis of Desmoid Tumors with a High-Density Single-Nucleotide Polymorphism Array Identifies New Molecular Candidate Lesions

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.

背景：硬纤维瘤是结缔组织的肿瘤性增生。已有研究表明，编码β-连环蛋白（钙黏附蛋白相关蛋白）β1的基因CTNNB1的突变状态，以及染色体水平的8号染色体三体，均与预后具有相关性。
患者与方法：为阐明此类肿瘤潜在的新型分子机制，本研究对9例患者开展了全基因组人类高密度单核苷酸多态性（SNP）芯片分子分析。
结果：单一样本在20号和6号染色体上出现数目畸变，表现为20号染色体三体或6号染色体单体。未检测到8号染色体三体。在5号染色体长臂（5q，包含APC基因座，n=3）与8号染色体短臂23区（8p23，n=4，包含潜在抑癌基因CSMD1的编码区域）发现复发性杂合缺失。此次在8p23区域发现的新型缺失与局部复发存在关联。此外，少数病例出现了染色体结构变异（8号及20号染色体拷贝数增加）。
结论：影响候选基因CSMD1的基因组改变，可能在硬纤维瘤的发生发展中发挥重要作用。