Renal Carcinoma
Conditions
Keywords
MiT family translocation renal cell carcinomas, Multiomics, Genetic, Epigenetic
Brief summary
Microphthalmia transcription factor (MiT) family translocation renal cell carcinomas (TRCC) are rare subtypes of kidney cancers, which often arise in children and young adults. TRCC are characterized by translocations affecting transcription factors: Transcription Factor Binding To Immunoglobulin Heavy Constant Mu Enhancer 3 (TFE3) and Transcription Factor EB (TFEB). Little is known about TRCC molecular heterogeneity, in particular their transcriptomic and epigenetic subtype classification. Clinical behavior of TRCC is varying with age and Tumor, Node, Metastasis (TNM) stage. However, the biological basis of this aggressiveness is poorly understood. PURPOSE: The primary goal of this study is to decipher specific alterations in aggressive TRCC, defined as cases with metastatic dissemination at diagnosis. To tackle this problem, a retrospective cohort of TRCC cases in children and young adults will be created. We will then perform integrative comprehensive multi-omics analysis of these tumors to identify genetic, epigenetic and immune biomarkers associated with metastatic behavior in a training and validation datasets. Comparison of the multi-omics data will be compared to other type of rare Kidney tumors as well as clear-cell renal cell carcinomas
Detailed description
This retrospective cohort study aims to allow tumor collection of TRCC from three different networks: the French research network in renal cancer (UroCCR), the International Society of Paediatric Oncology (SIOP) database and the network for rare renal carcinomas (CARARE). Those samples will be divided in training and validation datasets. We will also collect samples from patients with other rare kidney cancers and clear-cell renal cell carcinomas allowing comparisons of similarity and differences between these tumors.
Interventions
OTHERData collection
Retrospective data collection
Sponsors
National Cancer Institute, France
Ministry of Health, France
Institut de cancérologie Strasbourg Europe
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients treated for kidney cancer in a clinical center located in France For molecular biology study : * Patients with tumor sample available for genetic and epigenetic analysis. Tumor sample stored in Biological resource facilities and consent given from patient or from parents for the use of biological sample for biomedical research purposes.
Exclusion criteria
* Objection from patient or parents
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of genetic alterations associated with TRCC aggressiveness. | at the end of the study (36 months) | Tumor aggressiveness is defined as TRCC cases with metastatic dissemination at diagnosis. Comparison of recurrent genetic aberration identified between metastatic and localized cases. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Progression free survival (PFS) | From renal tumor diagnosis to progression or latest patient news at the end of the study (36 months) | Testing for association between molecular tumor features and clinico-pathological patients outcome, PFS, according to the identity of TFE fusion partner |
| Overall survival (OS) | From renal tumor diagnosis to death or latest patient news at the end of the study (36 months)6 months) | Testing for association between molecular tumor features and clinico-pathological patients outcome, OS, according to the identity of TFE fusion partner |
| Contribution of DNA methylation, transcriptome and immune landscape to metastatic potential | at the end of the study (36 months) | Proportion of patients with metastatic disease in each DNA methylation and messenger RNA (mRNA) cluster using hierarchical unsupervised subtype classifications |
Countries
France
Contacts
Primary ContactValérie SARTORI
Backup ContactManon VOEGELIN
Outcome results
None listed