鉴定肾透明细胞癌中的间变性淋巴瘤激酶融合（ALK-tRCC）：精准肿瘤医学病例报告。
Identification of anaplastic lymphoma kinase fusion in clear cell renal carcinoma (ALK-tRCC): a precision oncology medicine case report.
机构信息
Oncologia Medica, Casa di Cura Villa Margherita, Roma.
Radiologia Interventistica, Ospedale S. Andrea, Sapienza Università di Roma.
出版信息
Recenti Prog Med. 2021 Jan;112(1):14e-15e. doi: 10.1701/3525.35133.
BACKGROUND
Translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) is a rare subtype of adult renal cell carcinoma (RCC) reported in recent years.
CASE PRESENTATION
A new Italian case of ALK-tRCC was reported. The patient was a female 44-year-old with a metastatic and pretreated RCC. The tumor showed a rearrangement of ALK gene in tumor cells detected by targeted next-generation sequencing panel. The patient received oral alectinib therapy and achieved a partial response.
CONCLUSIONS
ALK-tRCC is a rare subtype of adult RCC. Its diagnosis is very difficult because the genomic alteration spectrum is very wide. We suggested that metastatic RCCs should be screened for uncommon genomic alterations expecially in good performance status pretreated resistant/refractory patients.
背景
涉及 ALK（ALK-tRCC）的易位相关性肾细胞癌是近年来报道的一种罕见的成人肾细胞癌（RCC）亚型。
病例介绍
报道了一例新的意大利ALK-tRCC 病例。患者为一名 44 岁女性，患有转移性和预处理过的 RCC。肿瘤细胞中 ALK 基因重排通过靶向下一代测序 panel 检测到。患者接受了口服阿来替尼治疗并获得了部分缓解。
结论
ALK-tRCC 是一种罕见的成人 RCC 亚型。由于基因组改变谱非常广泛，其诊断非常困难。我们建议对转移性 RCC 进行罕见的基因组改变筛查，特别是在预处理耐药/难治性患者的良好表现状态下。
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