ATR and BRCA2 Simultaneous Mutation in a ccRCC With Sarcomatoid Differentiation and Extensive Metastases: A Case Report - 11/08/21

Doi : 10.1016/j.urology.2021.04.025

Jing Yang ^1,^{⁎
These authors contributed equally.}, ^⁎ , Junyun Wang ^2,^3,^{^{⁎
These authors contributed equally.}}, Yunshi Liang ¹, Jianfei Wang ³, Jin Hsu ¹, Guorong Liu ¹, Xiubo Li ¹, Zhaoliang Tang ¹, Jinxiang Zhang ¹, Yunhai Huang ¹, Hong Yuan ¹, Yehui Chen ^1,^⁎
¹ Department of pathology, Guangzhou first people's hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, China
² CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences/China National Center for Bioinformation, Beijing 100101, China
³ GloriousMed Clinical Laboratory (Shanghai) Co., Ltd. No.11, Lane 100, Banxia Road, Pudong New Area, Shanghai 201318, China

^⁎⁎Address correspondence to: Yehui Chen, Department of pathology, Guangzhou first people's hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, ChinaDepartment of pathologyGuangzhou first people's hospitalSchool of MedicineSouth China University of TechnologyGuangzhouGuangdong510180China^⁎⁎⁎Address correspondence to: Jing Yang, M.D., Department of pathology, Guangzhou first people's hospital, School of Medicine, South China University of Technology, Guangzhou, Guangdong 510180, China.Department of pathologyGuangzhou first people's hospitalSchool of MedicineSouth China University of TechnologyGuangzhouGuangdong510180China

ABSTRACT

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.

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Esquema

CASE PRESENTATION

Histopathological and Immunohistochemical Findings

Gene Alteration Analysis With Next-Generation Sequencing (NGS)

DISCUSSION

	Disclosure: The authors report no conflicts of interest in this work.
	Funding Support: This work was supported by the National Natural Science Foundation of China (grant no. 81702796).

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ATR and BRCA2 Simultaneous Mutation in a ccRCC With Sarcomatoid Differentiation and Extensive Metastases: A Case Report - 11/08/21

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