Single-nuclei sequencing of uterine serous carcinoma reveals racial differences in immune signaling

K. Grace Foley & Mazhar Adli · 2024-08-12

Significant racial disparities exist between Black and White patients with uterine serous carcinoma (USC). While the reasons for these disparities are unclear, several studies have demonstrated significantly different rates of driver mutations between racial groups, including TP53. However, limited research has investigated the transcriptional differences of tumors or the composition of the tumor microenvironment (TME) between these groups. Here, we report the single-nuclei RNA-sequencing profiles of primary USC tumors from diverse racial backgrounds. We find that there are significant differences between the tumors of Black and White patients. Tumors from Black patients exhibited higher expression of specific genes associated with aggressiveness, such as PAX8, and axon guidance and synaptic signaling pathways. We also demonstrated that T cell populations are reduced in the tumor tissue compared to matched benign, while anti-inflammatory macrophage populations are retained within the TME. Furthermore, we investigated the connection between PAX8 overexpression and immunosuppression in USC through regulation of several cytokines and chemokines. Notably, we show that PAX8 activity can influence macrophage gene expression and protein secretion. These studies provide a detailed understanding of the USC transcriptome and TME, and identify differences in tumor biology from patients of different racial backgrounds.

Funding
NRG Oncology Network Group Operations CenterGynecologic Oncology Group Specimen BankingCarcinogenesis Training ProgramNorthwestern Center for Reproductive Science Predoctoral Training Program in Reproductive Science, Medicine, and TechnologyNorthwestern Center for Reproductive Science Predoctoral Training Program in Reproductive Science, Medicine, and TechnologyProject 02: Tumor Methylomics Analysis Link with Racial Disparities in Ovarian CancerNorthwestern Center for Reproductive Science Predoctoral Training Program in Reproductive Science, Medicine, and TechnologyProject 02: Tumor Methylomics Analysis Link with Racial Disparities in Ovarian CancerNRG Oncology Biospecimen BankCarcinogenesis Training Program

NCI NIH HHS

U10 CA180868

NCI NIH HHS

U24 CA114793

NCI NIH HHS

T32 CA009560

HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

T32HD094699

NICHD NIH HHS

T32 HD094699

HHS | NIH | National Cancer Institute (NCI)

P20CA233304

HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

1T32HD094699

NCI NIH HHS

P20 CA233304

NCI NIH HHS

U24 CA196067

HHS | NIH | National Cancer Institute (NCI)

CA009560

HHS | NIH | National Cancer Institute

CA009560

HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

T32HD094699

HHS | NIH | National Cancer Institute

P20CA233304

HHS | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

1T32HD094699