Clear cell sarcoma of the kidney (CCSK) is one of the major pediatric renal neoplasms, but its associated genetic abnormalities are largely unknown. We identified internal tandem duplications in the BCOR gene (BCL6 corepressor) affecting the C terminus in 100% (20/20) of CCSK tumors but in none (0/193) of the other pediatric renal tumors. CCSK tumors expressed only an aberrant BCOR allele, indicating a close correlation between BCOR aberration and CCSK tumorigenesis.

It has been suggested that inactivation of the cadherin-mediated cell-cell adhesion system plays a role in the initial steps of cancer invasion and metastasis. Expression of E-cadherin and its intracytoplasmic binding molecules, α-catenin, β-catenin and plakoglobin was examined immunohistochemically in 96 esophageal squamous cell carcinomas to investigate the association between their expression and the prognosis for patients with esophageal cancer. Reduced E-cadherin, α-catenin, β-catenin and plakoglobin expression was observed in 44, 72, 73 and 88% of the tumors, respectively. Reduced E-cadherin, α-catenin, β-catenin and plakoglobin expression correlated closely with the differentiation grade of the esophageal squamous cell carcinoma (p < 0.05). Downregulation of α-catenin was associated with a poor prognosis in patients with esophageal squamous cell carcinoma (p < 0.05). This result suggests that downregulation of α-catenin, which may reflect dysfunction of the cadherin-mediated cell-cell adhesion system, is a factor indicating a poor prognosis in patients with esophageal cancer.

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