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| Name | Class |
|---|---|
| National Cancer Institute, France | OTHER_GOV |
| Ministry of Health, France | OTHER_GOV |
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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
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with TRCC |
| ||
| Patients with other rare kidney tumors |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Data collection | Other | Retrospective data collection |
|
| Measure | Description | Time Frame |
|---|---|---|
| Identification of genetic alterations associated with TRCC aggressiveness. | Tumor aggressiveness is defined as TRCC cases with metastatic dissemination at diagnosis. Comparison of recurrent genetic aberration identified between metastatic and localized cases. | at the end of the study (36 months) |
| Measure | Description | Time Frame |
|---|---|---|
| Progression free survival (PFS) | Testing for association between molecular tumor features and clinico-pathological patients outcome, PFS, according to the identity of TFE fusion partner | From renal tumor diagnosis to progression or latest patient news at the end of the study (36 months) |
| Overall survival (OS) |
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Inclusion Criteria:
For molecular biology study :
Exclusion Criteria:
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Patients with TRCC and other rare kidney tumors
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Valérie SARTORI | Contact | 368767223 | 33 | v.sartori@icans.eu |
| Manon VOEGELIN | Contact | 368339523 | 33 | m.voegelin@icans.eu |
| Name | Affiliation | Role |
|---|---|---|
| Gabriel MALOUF, MD, PhD | Institut de cancérologie Strasbourg Europe | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Réseau Français de Recherche sur le Cancer du Rein (UroCCR) | Bordeaux | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32044098 | Background | 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. |
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| ID | Term |
|---|---|
| D002292 | Carcinoma, Renal Cell |
| ID | Term |
|---|---|
| D000230 | Adenocarcinoma |
| D002277 | Carcinoma |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009370 | Neoplasms by Histologic Type |
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| ID | Term |
|---|---|
| D003625 | Data Collection |
| ID | Term |
|---|---|
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
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Tumor samples (DNA and RNA extraction)
Testing for association between molecular tumor features and clinico-pathological patients outcome, OS, according to the identity of TFE fusion partner |
| From renal tumor diagnosis to death or latest patient news at the end of the study (36 months)6 months) |
| Contribution of DNA methylation, transcriptome and immune landscape to metastatic potential | Proportion of patients with metastatic disease in each DNA methylation and messenger RNA (mRNA) cluster using hierarchical unsupervised subtype classifications | at the end of the study (36 months) |
| Réseau SIOP, Hôpital Trousseau | Paris | France |
|
| Réseau CARARE | Rennes | France |
|
| Institut de cancérologie Strasbourg Europe | Strasbourg | 67033 | France |
|
| D009369 | Neoplasms |
| D007680 | Kidney Neoplasms |
| D014571 | Urologic Neoplasms |
| D014565 | Urogenital Neoplasms |
| D009371 | Neoplasms by Site |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052801 | Male Urogenital Diseases |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |