Renal Cell Carcinoma Clinical Trial
Official title:
Renji Hospital, School of Medicine, Shanghai Jiao Tong University
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.
- 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 ;
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