Department of Cancer and Functional Genomics, Institute of Genetics and Molecular and Cellular Biology, CNRS/INSERM/UNISTRA, Illkirch, France.
Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Oncologist. 2023 Nov 2;28(11):1009-1013. doi: 10.1093/oncolo/oyad173.
Racial disparities have been documented in the biology and outcome of certain renal cell carcinomas (RCCs) among Black patients. However, little is known about racial differences in MiT family translocation RCC (TRCC). To investigate this issue, we performed a case-control study using data from The Cancer Genome Atlas (TCGA) and the Chinese OrigiMed2020 cohort. A total of 676 patients with RCC (14 Asian, 113 Black, and 525 White) were identified in TCGA, and TRCC was defined as RCC with TFE3/TFEB translocation or TFEB amplification, leading to 21 patients with TRCC (2 Asian, 8 Black, 10 White, and 1 unknown). Asian (2 of 14 [14.3%] vs 10 of 525 [1.9%]; P = .036) and Black (8 of 113 [7.1%] vs 1.9%; P = .007) patients with RCC showed significantly higher prevalence of TRCC compared with White patients with RCC. The overall mortality rate of TRCC was slightly higher in Asian and Black patients compared with White patients (HR: 6.05, P = .069). OrigiMed2020 Chinese patients with RCC had a significantly higher proportion of TRCC with TFE3 fusions than TCGA White patients with RCC (13 of 250 [5.2%] vs 7 of 525 [1.3%]; P = .003). Black patients with TRCC were more likely to exhibit the proliferative subtype than White patients (6 of 8 [75%] vs 2 of 9 [22.2%]; P = .057) for those who had RNA-seq profiles. We present evidence of higher prevalence of TRCC in Asian and Black patients with RCC compared with White patients and show that these tumors in Asian and Black patients have distinct transcriptional signatures and are associated with poor outcomes.
在某些黑种人患者的肾细胞癌(RCC)的生物学和结果中已经记录了种族差异。然而,关于 MiT 家族易位 RCC(TRCC)的种族差异知之甚少。为了研究这个问题,我们使用来自癌症基因组图谱(TCGA)和中国 Origimed2020 队列的数据进行了病例对照研究。在 TCGA 中确定了 676 名 RCC 患者(14 名亚洲人,113 名黑人,525 名白人),TRCC 定义为具有 TFE3/TFEB 易位或 TFEB 扩增的 RCC,导致 21 名 TRCC 患者(2 名亚洲人,8 名黑人,10 名白人,1 名未知)。与白人 RCC 患者相比,RCC 患者中的亚洲人(2/14[14.3%] vs 10/525[1.9%];P=.036)和黑人(8/113[7.1%] vs 1.9%;P=.007)患者中 TRCC 的患病率明显更高。与白人 RCC 患者相比,亚洲和黑人患者的 TRCC 总体死亡率略高(HR:6.05,P=.069)。与 TCGA 白人 RCC 患者相比, Origimed2020 中国 RCC 患者中具有 TFE3 融合的 TRCC 比例明显更高(250 例中的 13 例[5.2%] vs 525 例中的 7 例[1.3%];P=.003)。在那些具有 RNA-seq 图谱的患者中,TRCC 的黑人患者比白人患者更有可能表现出增殖亚型(8 例中的 6 例[75%] vs 9 例中的 2 例[22.2%];P=.057)。我们提供了证据表明,与白人患者相比,亚洲和黑种人 RCC 患者中 TRCC 的患病率更高,并表明这些肿瘤在亚洲和黑种人患者中具有独特的转录特征,并与不良结局相关。