Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, Toronto, ON, Canada.
Division of Medical Oncology and Hematology, King Hussain Cancer Center, Amman, Jordan.
PLoS One. 2021 Dec 1;16(12):e0259272. doi: 10.1371/journal.pone.0259272. eCollection 2021.
Non-schistosomiasis related-squamous cell carcinoma of urinary bladder (NSR-SCCUB) is a rare tumor subtype distinct from urothelial carcinoma (UC). Studies assessing molecular biomarkers in bladder cancer have generally focused on UC, and genomic data of NSR-SCCUB is limited. We aim to provide additional insight into the molecular underpinnings of this rare entity.
NSR-SCCUB patients were identified retrospectively at Princess Margaret Cancer Centre between 2002 and 2017. Demographics, disease characteristics, therapeutic approaches, and outcomes were collected. Tissue samples were interrogated using the Oncomine Comprehensive Assay v3 (ThermoFisher). Kaplan-Meier method was used to estimate the disease-free survival and overall survival (OS).
Overall, 11 patients with NSR-SCCUB were identified between 2002 and 2017 with adequate tissue samples. Median age was 71 years (45-86), predominantly male (63.6%). At time of diagnosis, 9 patients (81.8%) had muscle-invasive disease, 1 (9.1%) had non-muscle invasive, and 1 (9.1%) had advanced disease. Nine (81.8%) patients had radical cystectomy and pelvic lymph nodes dissection. Eight (72.7%) patients had pT3 or pT4 with N0, and 5 (45.5%) were grade 3. Median OS was 12.5 months (95% CI 7.7-17.2 months). Single nucleotide variants or insertion/deletions were identified in TP53, TERT, PIK3CA, PTEN, CREBBP, FBXW7, and FGFR3. Amplifications were found in CCND1, and EGFR.
NSR-SCCUB has potentially actionable genomic alterations with anticancer agents and many of these aberrations are also seen in UC. The recruitment of NSR-SCCUB patients harboring such mutations should be considered in biomarker driven urinary bladder cancer studies.
非血吸虫病相关的膀胱鳞状细胞癌（NSR-SCCUB）是一种与尿路上皮癌（UC）不同的罕见肿瘤亚型。评估膀胱癌分子生物标志物的研究通常集中在 UC 上，而 NSR-SCCUB 的基因组数据有限。我们旨在为这一罕见实体的分子基础提供更多的见解。
在 2002 年至 2017 年期间，我们在玛格丽特公主癌症中心回顾性地确定了 NSR-SCCUB 患者。收集了人口统计学、疾病特征、治疗方法和结果。使用 Oncomine Comprehensive Assay v3（ThermoFisher）对组织样本进行检测。采用 Kaplan-Meier 法估计无病生存率和总生存率（OS）。
2002 年至 2017 年间，共确定了 11 例有足够组织样本的 NSR-SCCUB 患者。中位年龄为 71 岁（45-86 岁），主要为男性（63.6%）。诊断时，9 例（81.8%）为肌层浸润性疾病，1 例（9.1%）为非肌层浸润性疾病，1 例（9.1%）为晚期疾病。9 例（81.8%）患者行根治性膀胱切除术和盆腔淋巴结清扫术。8 例（72.7%）患者 pT3 或 pT4，且 N0，5 例（45.5%）为 3 级。中位总生存期为 12.5 个月（95%CI 7.7-17.2 个月）。在 TP53、TERT、PIK3CA、PTEN、CREBBP、FBXW7 和 FGFR3 中发现了单核苷酸变异或插入/缺失。在 CCND1 和 EGFR 中发现了扩增。
NSR-SCCUB 具有潜在的可靶向基因组改变，有多种针对癌症的药物可以治疗，其中许多异常也存在于 UC 中。在生物标志物驱动的膀胱癌研究中，应考虑招募携带此类突变的 NSR-SCCUB 患者。
