Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Eur Urol. 2022 Mar;81(3):229-233. doi: 10.1016/j.eururo.2021.11.013. Epub 2021 Dec 6.
To determine the incidence of renal neoplasia among patients undergoing nephrectomy for polycystic kidney disease (PKD), we queried our institutional nephrectomy registry (years 2000-2020). Approximately 4% (231 of 5757) of patients who underwent nephrectomy had PKD, and 26 of these 231 patients (11.3%) had renal neoplasia. Tumors from an additional two patients with PKD were also evaluated. Patients with PKD who had tuberous sclerosis complex (TSC)-associated renal neoplasia were screened for PKD1/TSC2 contiguous gene deletion syndrome (CGS) using single nucleotide polymorphism arrays. The median age of patients with PKD and renal neoplasia at nephrectomy was 54 yr. The median tumor size was 2.0 cm and the tumors were predominantly of low grade and stage. The tumors consisted of 23 renal cell carcinomas (RCCs), one epithelioid angiomyolipoma, and four angiomyolipomas. The median follow-up was 59.5 mo (n = 26) and only one patient with clear cell RCC developed metastases. Two patients with angiomyolipomas had PKD1/TSC2 CGS. Our results support screening of patients with PKD and TSC-associated renal neoplasia as well as TSC patients with cystic renal disease for CGS, as identification of patients with CGS can better define the manifestation and prognosis of CGS and guide counseling regarding patterns of inheritance. PATIENT SUMMARY: We identified patients with abnormal kidney cell growth (called renal neoplasia) among those undergoing removal of kidney tissue for polycystic kidney disease (PKD) and patients with a syndrome involving deletions in two genes, called PKD1/TSC2 contiguous gene deletion syndrome (CGS) at our institution. Of 231 PKD patients with removal of kidney tissue, 11.3% had renal neoplasia, and two patients with angiomyolipoma tumors had PKD1/TSC2 CGS. Detection of renal neoplasia associated with a condition called tuberous sclerosis complex in PKD may increase the identification of patients with PKD1/TSC2 CGS and guide patient counseling regarding outcomes and patterns of inheritance.
为了确定接受多囊肾病 (PKD) 肾切除术患者的肾肿瘤发生率，我们查询了我们的机构肾切除术登记处 (2000 年至 2020 年)。接受肾切除术的患者中约有 4% (5757 例中有 231 例) 患有 PKD，其中 26 例 (11.3%) 患有肾肿瘤。另外两名患有 PKD 的患者的肿瘤也进行了评估。患有结节性硬化症相关肾肿瘤的 PKD 患者接受了多囊肾病 1/结节性硬化症 2 连续基因缺失综合征 (CGS) 的单核苷酸多态性阵列筛查。行肾切除术的 PKD 患者的中位年龄为 54 岁。肿瘤的中位大小为 2.0cm，肿瘤主要为低级别和分期。肿瘤包括 23 例肾细胞癌 (RCC)、1 例上皮样血管平滑肌脂肪瘤和 4 例血管平滑肌脂肪瘤。中位随访时间为 59.5 个月 (n=26)，仅有 1 例透明细胞 RCC 发生转移。两名血管平滑肌脂肪瘤患者存在 PKD1/TSC2 CGS。我们的结果支持对 PKD 患者和结节性硬化症相关肾肿瘤以及囊性肾病的结节性硬化症患者进行 CGS 筛查，因为识别 CGS 患者可以更好地定义 CGS 的表现和预后，并指导关于遗传模式的咨询。患者概述：我们在本机构中发现了接受多囊肾病 (PKD) 组织切除的患者中存在异常肾脏细胞生长 (称为肾肿瘤) 以及涉及两个基因缺失的综合征 (称为多囊肾病 1/结节性硬化症 2 连续基因缺失综合征 [CGS]) 的患者。在 231 例接受肾组织切除的 PKD 患者中，11.3% 患有肾肿瘤，2 例血管平滑肌脂肪瘤患者存在 PKD1/TSC2 CGS。PKD 中与结节性硬化症相关的肾肿瘤的检测可能会增加对 PKD1/TSC2 CGS 患者的识别，并指导患者咨询有关结局和遗传模式的问题。
