Department of Medicine, Institut Gustave Roussy, Villejuif.
Department of Pathology, Hôpital Foch, Suresnes.
Ann Oncol. 2010 Sep;21(9):1834-1838. doi: 10.1093/annonc/mdq029. Epub 2010 Feb 12.
Xp11 translocation renal cell carcinoma (RCC) is an RCC subtype affecting 15% of RCC patients <45 years. We analyzed the benefit of targeted therapy [vascular endothelial growth factor receptor (VEGFR)-targeted agents and/or mammalian target of rapamycin (mTOR) inhibitors] in these patients.
Patients with Xp11 translocation/TFE3 fusion gene metastatic RCC who had received targeted therapy were identified. Nuclear TFE3 positivity was confirmed by reviewing pathology slides. Responses according to RECIST criteria, progression-free survival (PFS), and overall survival (OS) were analyzed.
Overall, 53 patients were identified; 23 had metastatic disease, and of these 21 had received targeted therapy (median age 34 years). Seven patients achieved an objective response. In first line, median PFS was 8.2 months [95% confidence interval (CI) 2.6-14.7 months] for sunitinib (n = 11) versus 2 months (95% CI 0.8-3.3 months) for cytokines (n = 9) (log-rank P = 0.003). Results for further treatment (second, third, or fourth line) were as follows: all three patients receiving sunitinib had a partial response (median PFS 11 months). Seven of eight patients receiving sorafenib had stable disease (median PFS 6 months). One patient receiving mTOR inhibitors had a partial response and six patients had stable disease. Median OS was 27 months with a 19 months median follow-up.
In Xp11 translocation RCC, targeted therapy achieved objective responses and prolonged PFS similar to those reported for clear-cell RCC.
Xp11 易位肾细胞癌（RCC）是一种 RCC 亚型，影响 15%的<45 岁 RCC 患者。我们分析了这些患者接受靶向治疗（血管内皮生长因子受体 [VEGFR]-靶向药物和/或哺乳动物雷帕霉素靶蛋白 [mTOR]抑制剂）的获益。
确定了接受过靶向治疗的 Xp11 易位/TFE3 融合基因转移性 RCC 患者。通过回顾病理学切片来确认核 TFE3 阳性。根据 RECIST 标准、无进展生存期（PFS）和总生存期（OS）分析反应。
共确定了 53 例患者；23 例有转移性疾病，其中 21 例接受了靶向治疗（中位年龄 34 岁）。7 例患者达到客观缓解。在一线治疗中，舒尼替尼（n = 11）的中位 PFS 为 8.2 个月（95%置信区间 [CI] 2.6-14.7 个月），而细胞因子（n = 9）为 2 个月（95% CI 0.8-3.3 个月）（对数秩 P = 0.003）。进一步治疗（二线、三线或四线）的结果如下：接受舒尼替尼治疗的 3 例患者均有部分缓解（中位 PFS 11 个月）。接受索拉非尼治疗的 8 例患者中，有 7 例疾病稳定（中位 PFS 6 个月）。1 例接受 mTOR 抑制剂治疗的患者有部分缓解，6 例患者疾病稳定。中位 OS 为 27 个月，中位随访时间为 19 个月。
在 Xp11 易位 RCC 中，靶向治疗实现了客观缓解，并延长了 PFS，与透明细胞 RCC 报道的结果相似。
