Discovery and validation of biomarker predicting FH-deficient RCC systemic treatments response~Analysis for expression level of ctDNA using Next generation sequencing in FH-deficient RCC blood by systemic treatments response~Analysis for expression level of mRNA using Next generation sequencing in FH-deficient RCC tissue by systemic treatments response~Analysis for expression level of small molecule metabolites using mass spectrometry in FH-deficient RCC tissue and blood by systemic treatments response~Analysis for genetic and protein expression at a single-cell level using a novel flow cytometry and RNA-sequencing protocol in FH-deficient RCC tissue and blood.~Validation of genetic and protein expression using qRT-PCR or IHC in multiple independent cohort.~Biological biomarkers-clinical factor combined prediction model of FH-deficient RCC systemic treatments response
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare subtype of RCC characterized by germline/somatic mutation of the fumarate hydratase (FH) gene, and is an extremely aggressive tumor, with a propensity to disseminate early even in the setting of a small primary tumor.~Affected individuals or individuals suspected of having a germline FH will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.