Infrequent Microsatellite Instability in Urothelial Cell Carcinoma of the Bladder in Young Patients

• Published in: European urology Vol. 49; no. 4; pp. 685 - 690
• Main Authors: Mongiat-Artus, Pierre, Miquel, Catherine, van der Aa, Madelon, Buhard, Olivier, Hamelin, Richard, Bangma, Chris, Teillac, Pierre, van der Kwast, Theodorus, Praz, Françoise
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier B.V 01-04-2006; Elsevier
• Subjects: Adult; Biological and medical sciences; Bladder; Carcinoma, Transitional Cell - genetics; Carcinoma, Transitional Cell - pathology; DNA Mismatch Repair; Female; Humans; Male; Medical sciences; Microsatellite Instability; Middle Aged; Neoplasm Staging; Nephrology. Urinary tract diseases; Tumors of the urinary system; Urinary Bladder Neoplasms - genetics; Urinary Bladder Neoplasms - pathology; Urinary system involvement in other diseases. Miscellaneous; Urinary tract. Prostate gland; Urothelial cell carcinoma; Bladder; Urothelial cell carcinoma; Microsatellite instability; Human; Nephrology; Urinary system disease; Microsatellite DNA; Instability; Bladder Urothelial cell carcinoma Microsatellite instability; Bladder disease; Malignant tumor; Urinary tract disease; Bladder carcinoma; Baldder transitional cell carcinoma; Urology
• ISSN: 0302-2838; 1873-7560
• DOI: 10.1016/j.eururo.2005.11.024

Defects in the DNA mismatch repair result in microsatellite instability (MSI), which characterise most tumours related to the hereditary non-polyposis colorectal cancer syndrome and some sporadic tumours. Several studies have reported the occurrence of MSI in urothelial cell carcinoma (UCC) of the bladder with a particularly high incidence in tumours from young patients. In this study, we have evaluated the occurrence of MSI in primary bladder UCC arising in seventeen young patients selected for being below 45 years of age at diagnosis.
Microsatellite analysis has been performed using the panel of five quasimonomorphic mononucleotide repeats (BAT-25, BAT-26, NR-21, NR-24, NR-27) recently recommended to detect MSI tumours. The original Bethesda panel including BAT-25, BAT-26 and three dinucleotide repeats (D2S123, D5S346, D17S250) has further been studied in 10 UCC samples.
MSI has been observed in only one of the 17 bladder UCC studied. Using the original Bethesda panel, identical results were obtained, indicating that the panel of five mononucleotide markers adequately detected MSI in UCC tumours.
Our data indicate that classical MSI affecting mono- or di-nucleotides are rarely involved in bladder UCC developing in young patients. Further studies using gold standard criteria would help clarifying the involvement of MSI in the pathogenesis of bladder UCC.