肾细胞癌 (RCC) 脑转移 (BM) 的分子特征尚未得到很好的表征。包括立体定向放射外科 (SRS) 在内的局部治疗的有效管理至关重要，因为全身治疗的进步提高了总生存期 (OS)。为了确定在大型患者队列中接受 SRS 治疗的 RCC BM 的临床基因组特征。一项单机构回顾性分析对 2010 年 1 月 1 日至 2021 年 3 月 31 日接受 SRS 治疗的所有 RCC BM 患者进行了研究。对 RCC BM 进行了 SRS。进行了下一代测序以确定 BM 患者中更常见的基因改变。使用 Cox 比例风险模型评估每个患者的临床因素和基因在 ≥10% 的样本中发生改变，并使用集群竞争风险回归和竞争死亡风险评估每个个体的 BM。91 名 RCC BM 患者接受了 SRS 至 212 次 BM，中位值对存活患者进行了 38.8 个月的随访。中位颅内无进展生存期和 OS 分别为 7.8（四分位距 [IQR] 5.7-11）和 21（IQR 16-32）个月。 SRS 后 12 个月实现了 83% 的持久局部控制，并且最初符合 3 个月评估时进展的影像学标准的病变的 59% 将被认为代表 6 个月评估时的假性进展。与 BM- 患者相比，BM 患者在基因和通路水平上的基因组改变的比较显示，磷酸肌醇 3-激酶 (PI3K) 通路改变在 BM 患者中更为普遍（43% vs 16%，p = 0.001，q = 0.01），其中大多数是 PTEN 改变（17% vs 2.7%，p = 0.003，q = 0.041）。据我们所知，这是调查 RCC BM 基因组图谱的最大研究，也是唯一具有注释颅内结果的此类研究。 SRS 提供对 BM 的持久现场本地控制。识别 SRS 后假性进展对于确保适当的管理至关重要。 PI3K 通路改变的发生率在 BM 患者中比在 BM-患者中更为普遍，并且值得在前瞻性环境中进行进一步研究。我们在一个大型转诊中心检查了放射治疗治疗肾癌患者脑转移的结果。我们发现放疗可以很好地控制脑肿瘤，并且某些基因突变在脑转移患者中可能更常见。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。

Molecular profiles of renal cell carcinoma (RCC) brain metastases (BMs) are not well characterized. Effective management with locoregional therapies, including stereotactic radiosurgery (SRS), is critical as systemic therapy advancements have improved overall survival (OS).To identify clinicogenomic features of RCC BMs treated with SRS in a large patient cohort.A single-institution retrospective analysis was conducted of all RCC BM patients treated with SRS from January 1, 2010 to March 31, 2021.SRS for RCC BMs.Next-generation sequencing was performed to identify gene alterations more prevalent in BM patients. Clinical factors and genes altered in ≥10% of samples were assessed per patient using Cox proportional hazards models and per individual BM using clustered competing risks regression with competing risk of death.Ninety-one RCC BM patients underwent SRS to 212 BMs, with a median follow-up of 38.8 mo for patients who survived. The median intracranial progression-free survival and OS were 7.8 (interquartile range [IQR] 5.7-11) and 21 (IQR 16-32) mo, respectively. Durable local control of 83% was achieved at 12 mo after SRS, and 59% of lesions initially meeting the radiographic criteria for progression at 3-mo evaluation would be considered to represent pseudoprogression at 6-mo evaluation. A comparison of genomic alterations at both the gene and the pathway level for BM+ patients compared with BM- patients revealed phosphoinositide 3-kinase (PI3K) pathway alterations to be more prevalent in BM+ patients (43% vs 16%, p = 0.001, q = 0.01), with the majority being PTEN alterations (17% vs 2.7%, p = 0.003, q = 0.041).To our knowledge, this is the largest study investigating genomic profiles of RCC BMs and the only such study with annotated intracranial outcomes. SRS provides durable in-field local control of BMs. Recognizing post-SRS pseudoprogression is crucial to ensure appropriate management. The incidence of PI3K pathway alterations is more prevalent in BM+ patients than in BM- patients and warrants further investigation in a prospective setting.We examined the outcomes of radiotherapy for the treatment of brain metastases in kidney cancer patients at a single large referral center. We found that radiation provides good control of brain tumors, and certain genetic mutations may be found more commonly in patients with brain metastasis.Copyright © 2024 European Association of Urology. Published by Elsevier B.V. All rights reserved.