Clinical trial NCT05456074: Integrative Molecular Characterization Of MiT Family Translocation Renal Cell Carcinomas (IMCOR)
Official title: Integrative Molecular Characterization Of MiT Family Translocation Renal Cell Carcinomas (IMCOR)
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Renal Carcinoma
Keywords: MiT family translocation renal cell carcinomas
Multiomics
Genetic
Epigenetic
Lead sponsor: Institut de cancérologie Strasbourg Europe
Sponsor class: OTHER
Collaborators: name: National Cancer Institute, France
name: Ministry of Health, France
First posted: 2022-07-13
Enrollment: 600
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with TRCC and other rare kidney tumors

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.

Eligibility criteria: 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

Primary outcomes:
measure: Identification of genetic alterations associated with TRCC aggressiveness.
timeFrame: at the end of the study (36 months)
Secondary outcomes:
measure: Progression free survival (PFS)
timeFrame: From renal tumor diagnosis to progression or latest patient news at the end of the study (36 months)
measure: Overall survival (OS)
timeFrame: From renal tumor diagnosis to death or latest patient news at the end of the study (36 months)6 months)
measure: Contribution of DNA methylation, transcriptome and immune landscape to metastatic potential
timeFrame: at the end of the study (36 months)
Other outcomes:
Locations:
city: Bordeaux
country: France
facility: Réseau Français de Recherche sur le Cancer du Rein (UroCCR)
city: Paris
country: France
facility: Réseau SIOP, Hôpital Trousseau
city: Rennes
country: France
facility: Réseau CARARE
city: Strasbourg
country: France
facility: Institut de cancérologie Strasbourg Europe
Study officials:
affiliation: Institut de cancérologie Strasbourg Europe
name: Gabriel MALOUF, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Herrscher H, Boileve A, Lindner V, Barthelemy P, Hutt E, Pierard L, Kurtz JE, Rioux-Leclercq N, Lang H, Malouf GG. [MiT family translocation renal cell carcinomas: Natural history, molecular features and multidisciplinary management]. Bull Cancer. 2020 Feb;107(2):272-280. doi: 10.1016/j.bulcan.2019.11.010. Epub 2020 Feb 7. French.