Our work focuses on 2 rare types of cancer, paragangliomas and renal cell carcinomas, on which we conduct multidisciplinary research, based on strong national and international collaborations and combining human genetics and genomics projects on patient cohorts and tumor collections accessible locally or via French and European networks (PREDIR , COMETE, ENS@T…). The close involvement of team members in the clinical management of affected patients (arterial hypertension, genetics, urology and anatomopathology) enables us to have a truly translational activity.
Our main objectives are to identify and validate diagnostic, prognostic and follow-up biomarkers in patients with these tumors.
We are interested in patients with metastatic renal cancer, whose prognosis is poor (8% survival at 5 years), with a particular interest in rare renal tumors (non-clear cell). We are conducting characterization studies of chromophobe cell renal cell carcinomas (RCC) and metastatic papillary RCC based on integrative studies combining mutational and immunohistochemical profiles, including a spatial transcriptomics approach, reinforced by functional characterization of metabolism. This work will shed light on the tumoral heterogeneity of the different types of RCC, uncover new mechanisms of oncogenesis and identify new therapeutic targets.
As regards paragangliomas, we are continuing our efforts to elucidate all genetically determined forms (identification and characterization of new predisposition genes; research into non-routine mechanisms of inactivation of known genes, etc.) and the routine transfer of recently identified biomarkers, in tumors or liquid biopsies, during patient management, for prognostic stratification, for the search for therapeutic targets in patients with aggressive disease, and for early detection of recurrences.