Inter- and intra-tumor heterogeneity of genetic and immune profiles in inherited renal cell carcinoma.
Cell Rep
; 42(7): 112736, 2023 07 25.
Article
in En
| MEDLINE
| ID: mdl-37405915
ABSTRACT
Patients with von Hippel-Lindau disease (vHL) are at risk of developing spatially and temporally multiple clear cell renal cell carcinomas (ccRCCs), which offers a valuable opportunity to analyze inter- and intra-tumor heterogeneity of genetic and immune profiles within the same patient. Here, we perform whole-exome and RNA sequencing, digital gene expression, and immunohistochemical analyses for 81 samples from 51 ccRCCs of 10 patients with vHL. Inherited ccRCCs are clonally independent and have less genomic alterations than sporadic ccRCCs. Hierarchical clustering of transcriptome profiles shows two clusters with distinct immune signatures immune hot and cold clusters. Interestingly, not only samples from the same tumors but also different tumors from the same patients tend to show a similar immune signature, whereas samples from different patients frequently exhibit different signatures. Our findings reveal the genetic and immune landscape of inherited ccRCCs, demonstrating the relevance of host factors in shaping anti-tumor immunity.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Carcinoma
/
Carcinoma, Renal Cell
/
Von Hippel-Lindau Disease
/
Kidney Neoplasms
Limits:
Humans
Language:
En
Journal:
Cell Rep
Year:
2023
Document type:
Article
Affiliation country: