Allelic deletions, which are suggestive for the presence of tumor suppressor genes, represent a common event in endometrial cancer (EC). Previous loss-of-heterozygosity studies for human chromosome 10q identified a candidate deletion interval at 10q25-q26, which we further narrowed to a 160-kb region at 10q26, bounded by markers D10S1236 and WIAF3299. Using a positional candidate approach, we identified three alternative transcripts of a novel human gene, CASC2 (cancer susceptibility candidate 2; formely C10orf5). One of such transcripts, CASC2a, encodes a short protein of 102 amino acids with no similarity to any other known gene product. Three (7%) CASC2a mutations were identified in tumor DNA from 44 EC patients. While c.-156G>T and c.22C>T (p.Pro8Ser) are sequence variants with unknown functional significance, c.84delA is a mutation with a truncation effect on the predicted protein (p. Asn28fsX50). Expression studies by real-time RT-PCR on several normal and tumor cells revealed that CASC2a mRNA is downregulated in cancer, suggesting that it may act as a potential tumor suppressor gene. The very low mutation rate seems to also indicate that inactivation of CASC2a might probably be due to mechanisms different from genetic alterations.

A case of angiotropic lymphoma involving renal glomeruli and interstitial vessels associated with nephrotic syndrome and with minor lesions in the glomerular basal membrane is reported. A 56-year-old woman had fever, weakness and clinical findings of a nephrotic syndrome with normal renal function. Renal biopsy revealed that the glomeruli were infiltrated by neoplastic lymphoid cells positive for CD20 and CD45; the glomerular basement membranes showed a pattern of minimal change disease. This case and our review of the literature suggest that the rare association of intravascular lymphoma and glomerular disease is more than coincidental.

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