Klin Onkol. 2021 Spring;34(2):137-140. doi: 10.48095/ccko2021137.
Translocation renal cell carcinoma (TRCC) is a rare form of RCC affecting mostly children and young adults with the occurrence of only 1-5% of all renal cell carcinomas. These carcinomas are associated with different translocations on a short arm of chromosome X in the region 11.2, which results in genetic modification of the p arm containing the transcription factor E3 gene.
Herein we report a case of a patient who was dia-gnosed with TRCC with c-Met overexpression and was treated with multiple targeted therapy agents and immunotherapy.
A 28-year old woman without a significant past medical history underwent left sided total nephrectomy for TRCC. Seven months later, she developed systemic relapse and was treated with multiple lines of targeted therapy including sunitinib, everolimus, sorafenib, crizotinib, and pazopanib as well as with anti-PD-L1 antibody nivolumab, with stable disease as a best response. The most pronounced disease stabilization was achieved with sorafenib, which lasted 18 months. The patient died 81 months after initial dia-gnosis and 74 months from the dia-gnosis of metastatic disease.
Improved survival observed in our patient could be related to the effectivity of tyrosine-kinase inhibitors, but notm-TOR inhibitors, even though disease stabilisation was observed as a best response. Identification of new treatment targets are warranted in this rare disease.
易位性肾细胞癌（TRCC）是一种罕见的 RCC 形式，主要影响儿童和年轻成年人，其发生率仅占所有肾细胞癌的 1-5%。这些癌与 X 染色体短臂 11.2 区的不同易位相关，导致包含转录因子 E3 基因的 p 臂发生基因修饰。
本文报告了一例 c-Met 过表达的 TRCC 患者，该患者接受了多种靶向治疗药物和免疫治疗。
一名 28 岁女性，无明显既往病史，因 TRCC 行左侧全肾切除术。7 个月后，她发生全身复发，接受了多种靶向治疗，包括舒尼替尼、依维莫司、索拉非尼、克唑替尼和帕唑帕尼以及抗 PD-L1 抗体纳武单抗，最佳反应为疾病稳定。疾病稳定最明显的是索拉非尼，持续了 18 个月。患者在初次诊断后 81 个月和转移性疾病诊断后 74 个月死亡。
我们的患者观察到的生存改善可能与酪氨酸激酶抑制剂的有效性有关，但与 m-TOR 抑制剂无关，尽管观察到疾病稳定是最佳反应。在这种罕见疾病中，需要确定新的治疗靶点。
