ATR 和 BRCA2 同时突变的伴肉瘤样分化和广泛转移的 ccRCC：病例报告。
ATR and BRCA2 Simultaneous Mutation in a ccRCC With Sarcomatoid Differentiation and Extensive Metastases: A Case Report.
机构信息
Department of pathology, Guangzhou first people's hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, China.
CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences/China National Center for Bioinformation, Beijing 100101, China; GloriousMed Clinical Laboratory (Shanghai) Co., Ltd. No.11, Lane 100, Banxia Road, Pudong New Area, Shanghai 201318, China.
出版信息
Urology. 2021 Aug;154:45-49. doi: 10.1016/j.urology.2021.04.025. Epub 2021 May 5.
The genomic landscape and driver-gene mutations differ significantly among diverse histological subtypes of clear cell renal cell carcinoma (ccRCC) due to the intratumoral heterogeneity. Frequent mutations in canonical DNA damage response genes, such as BRCA1/2 or ATR serine/threonine kinase (ATR) haven't been reported even in large-scale genomic profiling of ccRCC researches. Herein, we reported a rare ccRCC harboring ATR and BRCA2 simultaneous mutation with complicated morphologies and extensive metastases. Our case indicates that the deleterious alteration of DNA damage response genes, increasing CD8+ TILs, high PD1/PD-L1 expression and high TMB might contribute to this patient's tumor metastasis and aggressive biological behavior.
由于肿瘤内异质性，不同组织学亚型的透明细胞肾细胞癌（ccRCC）的基因组景观和驱动基因突变存在显著差异。即使在 ccRCC 研究的大规模基因组分析中，也没有报道过 BRCA1/2 或 ATR 丝氨酸/苏氨酸激酶（ATR）等典型 DNA 损伤反应基因的频繁突变。在此，我们报道了一例罕见的 ccRCC，同时存在 ATR 和 BRCA2 突变，具有复杂的形态和广泛的转移。我们的病例表明，DNA 损伤反应基因的有害改变、增加的 CD8+TILs、高 PD1/PD-L1 表达和高 TMB 可能导致该患者的肿瘤转移和侵袭性生物学行为。
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