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

Urothelial Neoplasms of the Urinary Bladder Occurring in Young Adult and Pediatric Patients

“…33 It was suggested that use of large number (22 panels) of dinucleotide markers may possibly explain the higher MSI detected. [32][33][34] Of note, the patient cohorts in those 2 studies were much older than in the study by Wild et al 31 (4 to 19 y) and also had higher number of invasive and grade 3 tumors. The study by Migaldi et al 33 showed microsatellite alteration to be associated with reduced risk of tumor recurrence and disease progression, but this was only shown in the univariate analysis.…”

“…90,91 Recent molecular studies also failed to show high MSI in bladder urothelial neoplasm of patients in the first 2 decades of life. 31,32 Familial clustering of nonocular cancers including bladder urothelial carcinoma have been observed in patients with retinoblastoma, [93][94][95][96] although risk attributed to radiotherapy and chemotherapy exposures have also been raised. 97 Recent study however, showed increased risk for life time bladder cancer in survivors of hereditary retinoblastoma even for those not exposed to high-dose radiotherapy.…”

“…4,13,29,30 Similarly, observations about the genetic and molecular make-up of bladder urothelial neoplasms in young patients have varied. [31][32][33][34][35] One reason for this variability is the differing criteria to define "young" patients in published series which have used cut-offs of 20, 30, or 40 to 45 years of age. 3,4,6,13,[26][27][28][29][30][31][32][33][34][35] Owing to conflicting opinions, currently there are no current standardized recommendations in terms of diagnostic approach and management specific for young or pediatric patients with bladder urothelial neoplasms.…”

Coexistent intraurothelial carcinoma and muscle-invasive urothelial carcinoma of the bladder: clonality and somatic down-regulation of DNA mismatch repair

“…Microsatellite profiles of bladder UCC have shown infrequent instability [9][10][11], which can be an independent prognostic marker for assessing risk of recurrence in superficial tumors irrespective of the grade [43]. Likewise, reduced expression of the MMR proteins may have an important contribution in the development of a subset of UCC and is a potentially useful prognostic marker [12,13], in particular for upper urinary tract tumors [44].…”

“…The clonal relationships between LGUD and CIS associated with muscle-invasive UCC have not been addressed. Although bladder UCC infrequently reveals microsatellite instability [9][10][11], the reduced expression of mismatch repair (MMR) proteins contributes to the development of a subset of UCC [12,13].…”