title: Microsatellite instability and TARBP2 mutation study in upper urinary tract urothelial carcinoma.
abstract: Microsatellite instability (MSI) contributes to the tumorigenesis of upper urinary tract urothelial carcinomas (UUT-UCs). In this study, we first used MLH1 and MSH2 immunohistochemistry to identify patients with loss of expression of either or both of these proteins in 132 UUT-UCs. We found a total loss of MSH2 expression in 4 patients. MSI was evaluated using 5 markers in these 4 cases. All of the tumors had high MSI (MSI-H) status. Trans-activation responsive RNA-binding protein 2, an integral component of DICER1-containing complex, was a putative target of DNA mismatch repair deficiency. Truncating mutation has been identified in gastrointestinal cancers with MSI. No previous study has evaluated the mutation status of this gene in MSI UUT-UCs. In this study, we analyze the mutation of TARBP2 in MSI-H UUT-UCs with reverse transcription polymerase chain reaction. No truncating mutations were identified in the MSI-H UUT-UCs.
authors.affiliation: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, PA, USA.
authors.forename: Shuting
authors.initials: S
authors.lastname: Bai
authors.forename: Amberly L
authors.initials: AL
authors.lastname: Nunez
authors.forename: Shi
authors.initials: S
authors.lastname: Wei
authors.forename: Amy
authors.initials: A
authors.lastname: Ziober
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yao
authors.forename: John E
authors.initials: JE
authors.lastname: Tomaszewski
authors.forename: Zhanyong
authors.initials: Z
authors.lastname: Bing
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002295:Carcinoma, Transitional Cell / Q000235:genetics*; D053843:DNA Mismatch Repair; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D007682:Kidney Pelvis; D008297:Male; D053842:Microsatellite Instability; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation; D016601:RNA-Binding Proteins / Q000235:genetics*; D014516:Ureteral Neoplasms / Q000235:genetics*; D019459:Urothelium; D000099253:Trans-Activation Responsive RNA-Binding Protein
chemical_list: D051718:MutS Homolog 2 Protein; D016601:RNA-Binding Proteins; D000099253:Trans-Activation Responsive RNA-Binding Protein; C497172:MSH2 protein, human
keywords: MLH1; MSH2; TARBP2; UUT-UC