Role of PD-1/PD-L1-mediated tumour immune escape mechanism and microsatellite instability in the BCG failure of high-grade urothelial carcinomas

Turk J Med Sci. 2022 Dec;52(6):1802-1813. doi: 10.55730/1300-0144.5526. Epub 2022 Dec 21.

Abstract

Background: Intravesical BCG treatment fails inexplicably in 30%-45% of patients for high-grade nonmuscle-invasive bladder cancer (NMIBC). We aimed to investigate the role of PD-1/PD-L1 interaction on BCG failure of high-grade NMIBC and to identify biomarkers for predicting BCG responsive cases.

Methods: Thirty BCG responsive and 29 nonresponsive NMIBCs were included in the study. Expressions of PDL1(SP-263), MSH2, MSH6, PMS2, and MLH1 were evaluated on pre- and post-BCG transurethral resection (TUR-B) specimens by immunohistochemistry. PD-L1(SP-263) expression was categorised as negative/low, high. DNA mismatch repair protein (MMR) expressions were classified as "reduced" if ≤30% of nuclei stained, "preserved" if >30% of nuclei stained. Microsatellite instability (MSI) testing was performed by PCR using five mononucleotide markers.

Results: Reduced DNA MMR protein expression was found to be significantly higher in the pretreatment biopsies of BCG-responsive group than the BCG nonresponsive tumour group (p = 0.022). PD-L1 expression did not show any significant difference between the pre- and posttreatment TUR-B specimens of the BCG nonresponsive tumour group or between the pretreatment TUR-B specimens of BCG nonresponsive and the BCG responsive groups (p = 0.508, p = 0.708, respectively).

Discussion: Immune escape of tumour cells by PD-1/PD-L1 interaction does not seem to have any role in BCG failure of NMIBCs. Reduced MMR expression may help to determine cases that will respond well to BCG therapy. A better antitumour activity of BCG in NMIBCs with reduced MMR expression may be related to the ongoing accumulation of cancer neoantigens in correlation with increased tumour mutation load as a result of DNA repair defects.

Keywords: BCG therapy; Nonmuscle-invasive bladder carcinoma; PD-L1; immunotherapy; microsatellite instability; mismatch repair.

MeSH terms

  • B7-H1 Antigen
  • BCG Vaccine / therapeutic use
  • Biomarkers, Tumor / metabolism
  • Carcinoma, Transitional Cell* / genetics
  • Carcinoma, Transitional Cell* / pathology
  • Humans
  • Microsatellite Instability
  • Programmed Cell Death 1 Receptor / genetics
  • Tumor Escape
  • Urinary Bladder Neoplasms* / genetics

Substances

  • Programmed Cell Death 1 Receptor
  • BCG Vaccine
  • B7-H1 Antigen
  • Biomarkers, Tumor

Grants and funding

This study was supported by The Scientific and Technological Research Council of Turkey (TÜBİTAK) (grant number 119S342); and the Scientific Research Projects Coordinatorship of Ankara University (grant number 19H0230001).