SMARCB1 缺陷型肾髓样癌 (RMC) 是一种罕见的肾癌，与镰状细胞血红蛋白病相关，预后不良，仅在病例报告和小系列研究中描述。我们报告了一大群 RMC 患者的疾病和管理特征以及当代生存结果。数据是从 2003 年 1 月至 2023 年 12 月期间在 MD 安德森癌症中心治疗的所有 RMC 患者中回顾性提取的。多变量 Cox 回归用于估计按诊断时期划分的总生存期 (OS)。在 135 名患者中（中位随访时间为 54.9 个月），只有 9 名患者没有出现镰状血红蛋白病，并被归类为未分类髓质表型的肾细胞癌 (RCCU-MP)。大多数患者 (78%) 出现转移性疾病，主要转移至腹膜后淋巴结 (81.7%)，血尿是与镰状血红蛋白病相关的 RMC 中最常见的症状 (60%)。生存结果随诊断年份而改善（调整后风险比 0.70，95% 置信区间 0.53-0.92，p = 0.01）。 RCCU-MP 发生在年龄稍大的患者中，诊断后中位 OS 为 19.5 个月，没有表现出右肾偏爱或男性占优势，并且主要受累于白种人 (89%)。该研究因其在一个中心进行的回顾性性质而受到限制。RMC 经常出现血尿，并且很可能扩散到腹膜后淋巴结。通过现代管理，生存结果正在改善。 RCCU-MP 非常罕见，侵袭性可能稍差。肾髓质癌 (RMC) 是一种罕见且侵袭性的肾癌亚型，主要影响非洲裔年轻男性和女性。关于患者人口统计和疾病特征的数据有限。我们报告了我们机构治疗 RMC 患者的经验。大多数 RMC 患者报告的第一个症状是尿中带血，癌症最常见的扩散部位是肾脏周围的淋巴结。通过现代治疗，RMC 患者的寿命更长。版权所有 © 2024 欧洲泌尿外科协会。由 Elsevier B.V. 出版。保留所有权利。

SMARCB1-deficient renal medullary carcinoma (RMC) is a rare kidney cancer associated with sickle cell hemoglobinopathies with poor outcomes described only in case reports and small series. We report disease and management characteristics as well as contemporary survival outcomes in a large cohort of patients with RMC.Data were extracted retrospectively from all patients with RMC treated at MD Anderson Cancer Center between January 2003 and December 2023. Multivariable Cox regression was used to estimate overall survival (OS) by diagnosis period.Among 135 patients (median follow-up of 54.9 mo), only nine did not harbor a sickle hemoglobinopathy and were categorized as having renal cell carcinoma, unclassified with medullary phenotype (RCCU-MP). Most patients (78%) presented with metastatic disease, predominantly to the retroperitoneal lymph nodes (81.7%), and hematuria was the most frequent presenting symptom (60%) in RMC associated with sickle hemoglobinopathy. Survival outcomes improved by diagnosis year (adjusted hazard ratio 0.70, 95% confidence interval 0.53-0.92, p = 0.01). RCCU-MP occurred in slightly older patients with median OS of 19.5 mo from diagnosis, did not show a predilection to the right kidney or male predominance, and afflicted mainly Caucasians (89%). The study is limited by its retrospective nature conducted at one center.RMC frequently presents with hematuria and is highly likely to spread to the retroperitoneal lymph nodes. Survival outcomes are improving with contemporary management. RCCU-MP is very rare and may be slightly less aggressive.Renal medullary carcinoma (RMC) is a rare and aggressive subtype of kidney cancer afflicting primarily young men and women of African descent. There exist limited data regarding patient demographics and disease characteristics. We reported our institution's experience in treating patients with RMC. The first symptom most patients with RMC reported was blood in the urine, and the most common places where the cancer spread were the lymph nodes around the kidney. Patients with RMC are living longer with contemporary treatments.Copyright © 2024 European Association of Urology. Published by Elsevier B.V. All rights reserved.