Genomic analysis of bladder urothelial carcinoma with osteoclast‑like giant cells: A case report

Mol Clin Oncol. 2024 Jun 20;21(2):55. doi: 10.3892/mco.2024.2753. eCollection 2024 Aug.

Abstract

Urothelial carcinoma of the bladder with osteoclast-like giant cells (UCOGCs) is rare among the subtypes of poorly differentiated urothelial carcinoma. Its clinical significance and optimal treatment are unknown, and few reports on genomic analysis of UCOGCs have been reported. Detailed analysis including genetic analysis for rare type variants of cancer could be a foothold for further research. The present case describes the case of a 75-year-old man who presented with a non-papillary bladder tumor 56 mm in diameter showing gross hematuria and pain on voiding. Following transurethral resection of the bladder tumor, the pathological diagnosis was invasive UCOGCs. Neoadjuvant chemotherapy and radical cystectomy were performed with the resected tumor pathologically diagnosed as invasive UCOGCs, high grade, pT3b, pN1. The present study also analyzed the genomic features using a cancer panel test. The panel test noted six gene alterations (PIK3CA p.E542K, HRAS p.G13R, ARAF copy number amplification, CDKN2A copy number loss, TP53 p.E285V, ARID1A p.S90Pfs*11) and telomerase reverse transcriptase (TERT) promoter variant. Accumulation of knowledge from molecular-based testing is anticipated to determine precise treatment for rare cancer.

Keywords: bladder cancer; gene alterations; osteoclast-like giant cells; rare subtype; urothelial carcinoma with osteoclast-like giant cells.

Publication types

  • Case Reports

Grants and funding

Funding: This work was supported by Gifu Prefecture Medical Association Research Grant.