目的:SMARCB1缺陷型肾髓样癌(RMC)是一种罕见的与镰状细胞血红蛋白病相关的肾癌,仅在病例报告和小系列报告中描述不良预后。我们报告了大量RMC患者的疾病和管理特征以及当代生存结果。
方法:对2003年1月至2023年12月在MDAnderson癌症中心接受RMC治疗的所有患者进行回顾性分析。多变量Cox回归用于估计诊断期的总生存期(OS)。
■在135名患者中(中位随访时间为54.9个月),只有9人没有镰状血红蛋白病,被归类为患有肾细胞癌,未分类与髓样表型(RCCU-MP)。大多数患者(78%)出现转移性疾病,主要到腹膜后淋巴结(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%)。生存结果随诊断年而改善(调整后的风险比0.70,95%置信区间0.53-0.92,p=0.01)。RCCU-MP发生在诊断后中位OS为19.5个月的年龄稍大的患者中,没有表现出右肾或男性优势,受影响的主要是白种人(89%)。该研究受限于其在一个中心进行的回顾性性质。
结论:RMC常表现为血尿,极有可能扩散到腹膜后淋巴结。随着当代管理的发展,生存结果正在改善。RCCU-MP是非常罕见的,可能稍微不那么激进。
结果:肾髓样癌(RMC)是一种罕见且侵袭性的肾癌亚型,主要困扰非洲裔年轻男女。关于患者人口统计学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患者报告的首发症状是尿液中的血液,最常见的癌症扩散部位是肾脏周围的淋巴结。RMC患者在现代治疗中的寿命更长。
OBJECTIVE: 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.
METHODS: 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.
UNASSIGNED: 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.
CONCLUSIONS: 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.
RESULTS: 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.