A5017024121- Cancer Genomics and Diagnostics
- Sarcoma Diagnosis and Treatment
- Genetic factors in colorectal cancer
- Lung Cancer Treatments and Mutations
- Adrenal and Paraganglionic Tumors
- Radiomics and Machine Learning in Medical Imaging
- Hormonal Regulation and Hypertension
- Molecular Biology Techniques and Applications
- Cancer, Hypoxia, and Metabolism
- Cancer Immunotherapy and Biomarkers
- Uterine Myomas and Treatments
- Pancreatic and Hepatic Oncology Research
- Cancer Research and Treatments
- DNA Repair Mechanisms
- Lymphoma Diagnosis and Treatment
- Gastrointestinal Tumor Research and Treatment
- Colorectal Cancer Treatments and Studies
- Hereditary Neurological Disorders
- Cardiac tumors and thrombi
- HER2/EGFR in Cancer Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- RNA regulation and disease
- Cell Adhesion Molecules Research
- Genomics and Rare Diseases
- Cancer and Skin Lesions
Institut Bergonié
2016-2024
Centre Hospitalier de l’Université de Montréal
2016
Hôpital Européen
2013-2016
Inserm
2013-2016
Hôpital Européen Georges-Pompidou
2013-2016
Délégation Paris 5
2013-2016
Sorbonne Paris Cité
2013-2016
Université Paris Cité
2013-2016
Assistance Publique – Hôpitaux de Paris
2013-2016
Paris Cardiovascular Research Center
2013-2015
Malignant pheochromocytoma (PCC) and paraganglioma (PGL) are mostly caused by germline mutations of SDHB, encoding a subunit succinate dehydrogenase. Using whole-exome sequencing, we recently identified mutation in the FH gene fumarate hydratase, PCC with an 'SDH-like' molecular phenotype. Here, investigated role PCC/PGL predisposition, screening for large international cohort patients. We screened 598 patients without known susceptibility genes. searched deletions, direct sequencing...
Abstract Pheochromocytomas and paragangliomas (PCCs/PGLs) are neural crest-derived tumours with a very strong genetic component. Here we report the first integrated genomic examination of large collection PCC/PGL. SNP array analysis reveals distinct copy-number patterns associated background. Whole-exome sequencing shows low mutation rate 0.3 mutations per megabase, few recurrent somatic in genes not previously DNA methylation arrays miRNA identify changes expression clusters strongly...
Patients with advanced soft-tissue sarcomas (STS) have a median overall survival of less than 18 months. Identification molecular abnormalities for which targeted therapies are available or can be developed is critical improving patient outcomes.To characterize targetable genomic alterations (GAs) in patients STS.This cross-sectional study next-generation sequencing results from 584 STS included the AACR GENIE Database.Presence GAs STS.Of analysis, 294 (50.3%) were men and 290 (49.7%) women,...
Background: Ameloblastoma is a rare head and neck tumor characterized by high incidence of BRAF mutation providing rationale for the use inhibitors in patients with advanced disease. Methods: We report case 26-year old female presenting metastatic ameloblastoma. A molecular screening revealed V600E mutation. Results: The patient started treatment dabrafenib trametinib experienced complete response which still ongoing 30 weeks after onset. Conclusions: observed here illustrate role profiling...
More than 40% of patients with paragangliomas (PGLs) harbor a germline mutation the known PGL susceptibility genes, mainly in SDHB or SDHD genes. The objective study was to characterize genetic background French Canadian (FC) PGLs and provide new clinical paraclinical insights on SDHC-related PGLs. Genetic testing has been offered FC affected followed up at adrenal genetics clinic Centre hospitalier de l'Université Montréal. After counseling, 29 consented for testing. Thirteen (44.8%)...
Abstract Background Soft-tissue sarcomas (STS) represent a heterogeneous group of rare tumors including more than 70 different histological subtypes. High throughput molecular analysis (next generation sequencing exome [NGS]) is unique opportunity to identify driver mutations that can change the usual one-size-fits-all treatment paradigm patient-driven therapeutic strategy. The primary objective MULTISARC trial assess whether NGS be conducted for large proportion metastatic STS participants...
Aims NTRK ‐rearranged sarcomas of the female genital tract mainly occur in uterus (more commonly cervix than corpus) and are characterized by a “fibrosarcoma‐like” morphology gene rearrangements. These neoplasms may exhibit histological overlap with other entities can present diagnostic difficulties without molecular confirmation. Pan‐TRK immunohistochemistry was developed to identify tumours harbouring The aim this study characterize pan‐TRK immunohistochemical expression large cohort...
The transcription factor EGR2 is expressed in Schwann cells, where it controls peripheral nerve myelination. Mutations of have been found patients with congenital hypomyelinating neuropathy or Charcot-Marie-Tooth disease type 1D. In a patient amyelinating neuropathy, we observed pathological abnormalities recapitulating the nervous system phenotype homozygous Egr2-null mice. This patient, born from consanguineous parents, showed no immunoreactivity cells and harbored 10.7-kilobase-long...
Abstract We analyzed the antitumor activity of platinum-based chemotherapies and then immune checkpoint inhibitors (ICI) in all-comers patients with solid tumors having a somatic DNA damage repair gene alteration (DDR-GA) identified through prospective precision medicine study (NCT02534649). Each DDR-GA was classified as pathogenic (Pa), probably (PPa), unknown pathogenicity (UPa) according to OncoKB ClinVAR databases. Between January 2018 May 2020, 662 were screened. One hundred ninety-nine...
Aims Idylla epidermal growth factor receptor ( EGFR ) is a fast and fully automated mutation assay that easy to implement. However, under the Biocartis-recommended technical conditions, tissue sections are directly introduced into cartridge, at risk of exhausting tumour sample. In this study, we evaluate performance on extracted DNA discuss its place within global non-small-cell lung cancer (NSCLC) screening strategy. Methods 577 comparative tests between next-generation sequencing (NGS)...
11002 Background: Patients with advanced soft-tissue sarcomas have a very poor outcome median overall survival of less than 18 months. Identification molecular abnormalities for which targeted therapies are available or can be developed is critical improving their outcomes. Methods: We analyzed the mutational and copy number profiles patients sarcoma sequenced through AACR Project GENIE Consortium in order to identify proportion cases bearing actionable mutation. Results: 587 (pts) were...
11593 Background: BIP is an institution-wide permanent screening program (NCT02534649) started in 2014 to identify pts referred Institut Bergonié (Bordeaux, France) with somatic alterations that can be matched targeted therapies early phase clinical trials (EPCT). Methods: Pts advanced solid tumors and ECOG performance status ≤ 2 were eligible. Tumor DNA was isolated from a FFPE archived sample when available or fresh tumor biopsy. analysis performed by next generation sequencing using panel...