Department of Urology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.
Department of Medical Oncology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands.
Int J Cancer. 2021 Feb 15;148(4):981-987. doi: 10.1002/ijc.33327. Epub 2020 Oct 13.
The risk of developing urothelial carcinoma of the bladder (UCB) in patients treated by radical nephroureterectomy (RNU) for an upper urinary tract urothelial carcinoma (UTUC) is 22% to 47% in the 2 years after surgery. Subject of debate remains whether UTUC and the subsequent UCB are clonally related or represent separate origins. To investigate the clonal relationship between both entities, we performed targeted DNA sequencing of a panel of 41 genes on matched normal and tumor tissue of 15 primary UTUC patients treated by RNU who later developed 19 UCBs. Based on the detected tumor-specific DNA aberrations, the paired UTUC and UCB(s) of 11 patients (73.3%) showed a clonal relation, whereas in four patients the molecular results did not indicate a clear clonal relationship. Our results support the hypothesis that UCBs following a primary surgically resected UTUC are predominantly clonally derived recurrences and not separate entities.
接受根治性肾输尿管切除术（RNU）治疗上尿路尿路上皮癌（UTUC）的患者，术后 2 年内发生膀胱尿路上皮癌（UCB）的风险为 22%至 47%。争论的主题仍然是 UTUC 和随后的 UCB 是否具有克隆相关性，或者是否代表不同的起源。为了研究这两种实体之间的克隆关系，我们对 15 例接受 RNU 治疗的原发性 UTUC 患者的配对正常和肿瘤组织进行了 41 个基因的靶向 DNA 测序，这些患者随后发生了 19 例 UCB。根据检测到的肿瘤特异性 DNA 异常，11 例患者（73.3%）的配对 UTUC 和 UCB 显示出克隆相关性，而在 4 例患者中，分子结果并未表明明确的克隆关系。我们的结果支持以下假设，即原发性手术切除的 UTUC 后继发的 UCB 主要是克隆性复发，而不是不同的实体。
