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

被引:1
|
作者
Kameyama, Koji [1 ]
Mizutani, Kosuke [1 ,2 ]
Yamada, Tetsuya [3 ]
Sugiyama, Seiji [3 ]
Kamei, Shingo [1 ]
Yokoi, Shigeaki [1 ]
Matsunaga, Kengo [3 ]
Hirade, Koseki [2 ]
Kato, Yasutaka [4 ]
Nishihara, Hiroshi [4 ]
Ishihara, Satoshi [1 ,2 ]
Deguchi, Takashi [1 ]
机构
[1] Cent Japan Int Med Ctr, Dept Urol, 1-1 Kenkonomachi, Minokamo, Gifu 5058510, Japan
[2] Cent Japan Int Med Ctr, Canc Genom Testing & Treatment Ctr, Minokamo, Gifu 5058510, Japan
[3] Cent Japan Int Med Ctr, Dept Pathol, Minokamo, Gifu 5058510, Japan
[4] Keio Univ, Sch Med, Keio Canc Ctr, Genom Unit, Tokyo 1658582, Japan
关键词
osteoclast-like giant cells; urothelial carcinoma with osteoclast-like giant cells; bladder cancer; rare subtype; gene alterations; CANCER; CHEMOTHERAPY; SURVIVAL; VARIANT;
D O I
10.3892/mco.2024.2753
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
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页数:5
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