Spots Global Cancer Trial Database for Biomarkers of Response to Systemic Treatments in FH-deficient RCC

Study Description

Brief Summary: 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.

Detailed Description: * 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

Keywords

Eligibility

Minimum Age: 18 Years

Eligible Ages: ADULT, OLDER_ADULT

Sex: ALL

Healthy Volunteers: No

Locations

Contact Details

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