Genomic and Metabolic Hallmarks of SDH- and FH-deficient Renal Cell Carcinomas.

ABSTRACT:

Background

Succinate dehydrogenase-deficient and fumarate hydratase-deficient renal cell carcinomas (SDHRCC and FHRCC) are rare kidney cancers driven by loss of TCA cycle enzymes.

Objective

To define and compare the genomic and metabolomic hallmarks of SDHRCC and FHRCC.

Design, setting, and participants

We analyzed SDHRCC and FHRCC tumors with either immunohistochemical evidence of loss of protein expression or genomically confirmed biallelic inactivation of SDHA/B/C/D/AF2 or FH.

Outcome measurements and statistical analysis

Somatic alterations were identified using clinical pipelines, with allele-specific copy number alterations (CNAs) identified using FACETS. Mass spectrometry-based metabolomic profiling was performed on available SDHRCC and FHRCC tumors.

SUBMITTER: Yoo A 

PROVIDER: S-EPMC9464266 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature