A5002404018- Glioma Diagnosis and Treatment
- Cancer, Hypoxia, and Metabolism
- Immunodeficiency and Autoimmune Disorders
- Radiomics and Machine Learning in Medical Imaging
- Microtubule and mitosis dynamics
- RNA modifications and cancer
- Blood disorders and treatments
- Diabetes and associated disorders
- Immune Cell Function and Interaction
- Fibroblast Growth Factor Research
- Sarcoma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Meningioma and schwannoma management
- Neuroblastoma Research and Treatments
- Atrial Fibrillation Management and Outcomes
- Lymphoma Diagnosis and Treatment
- Ferroptosis and cancer prognosis
- Esophageal and GI Pathology
- Nuclear Structure and Function
- Hepatitis B Virus Studies
- Tuberculosis Research and Epidemiology
- Bacteriophages and microbial interactions
- Cancer Genomics and Diagnostics
- Neonatal Respiratory Health Research
- Congenital Diaphragmatic Hernia Studies
Centre National de la Recherche Scientifique
2015-2025
Inserm
2015-2025
Institut des Maladies Génétiques Imagine
2020-2025
Sorbonne Université
2014-2024
Institut du Cerveau
2015-2024
Université Paris Cité
2015-2023
Structure fédérative de recherche Necker
2023
University of Pavia
2018
Assistance Publique – Hôpitaux de Paris
2018
Hôpital Cochin
2000
The genetics underlying severe COVID-19 immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals lack specific IFNs can be more susceptible to infectious diseases. Furthermore, the autoantibody dampens IFN response prevent damage from pathogen-induced inflammation. Two studies now examine likelihood affects risk of coronavirus disease 2019 (COVID-19) through components this (see Perspective by Beck Aksentijevich). Q....
Abstract Background Isocitrate dehydrogenase (IDH) wildtype (wt) grade II gliomas are a rare and heterogeneous entity. Survival prognostic factors poorly defined. Methods We searched retrospectively all patients diagnosed with diffuse World Health Organization (WHO) grades III at our center (1989–2020). Results Out of 517 gliomas, 47 were “diffuse astrocytomas, IDHwt.” Tumors frequently had fronto-temporo-insular location (28/47, 60%) infiltrative behavior. found telomerase reverse...
Interferon regulatory factor 4 (IRF4) is a transcription (TF) and key regulator of immune cell development function. We report recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) seven patients from six unrelated families. The exhibited profound susceptibility to opportunistic infections, notably Pneumocystis jirovecii , presented with agammaglobulinemia. Patients’ B cells showed impaired maturation, decreased immunoglobulin isotype...
Actionable fibroblast growth factor receptor 3 (FGFR3)-transforming acidic coiled-coil protein fusions (F3T3) are found in approximately 3% of gliomas, but their characteristics and prognostic significance still poorly defined. Our goal was to characterize the clinical, radiological, molecular profile F3T3 positive diffuse gliomas.We screened fusion by real-time (RT)-PCR FGFR3 immunohistochemistry a large series characterized for main genetic alterations, histology, clinical evolution. We...
Abstract Adult glioblastomas, IDH‐wildtype represent a heterogeneous group of diseases. They are resistant to conventional treatment by concomitant radiochemotherapy and carry dismal prognosis. The discovery oncogenic gene fusions in these tumors has led prospective targeted treatments, but identification rare alterations practice is challenging. Here, we report series 30 adult diffuse gliomas with an frame FGFR3‐TACC3 fusion ( n = 27 WHO grade IV 3 II) as well their histological molecular...
To characterize the prevalence and prognostic significance of major driver molecular alterations in adult midline diffuse gliomas (MLG).Adults with histologically proven MLG diagnosed between 1996 2017 were identified from our tumor bank, systematically reviewed, reclassified according to WHO 2016. Targeted sequencing was performed, including determination H3F3A, HIST1H3B, TERTp, IDH1/2, FGFR1, p16/CDKN2A, EGFR status.A total 116 patients (M/F 71/45, median age 46.5 years) (17 cerebellar, 8...
Inborn errors of immunity cause monogenic immune dysregulatory conditions such as severe and recurrent pathogen infection, inflammation, allergy, malignancy. Somatic reversion refers to the spontaneous repair a pathogenic germline genetic variant has been reported occur in number inborn immunity, with range impacts on clinical outcomes these conditions. DOCK8 deficiency due biallelic inactivating mutations causes combined immunodeficiency characterized by bacterial, viral, fungal infections,...
Oncogenic FGFR-TACC fusions are present in 3-5% of high-grade gliomas (HGGs). Fexagratinib (AZD4547) is an oral FGFR1-3 inhibitor with preclinical activity FGFR-TACC+ gliomas. We tested its safety and efficacy patients recurrent + HGGs.
Here, we report on a heterozygous interferon regulatory factor 4 (IRF4) missense variant identified in three patients from multigeneration family with hypogammaglobulinemia. Patients' low blood plasmablast/plasma cell and naïve CD4 CD8 T counts contrasted high terminal effector counts. Expression of the mutant IRF4 protein control lymphoblastoid B lines reduced expression BLIMP-1 XBP1 (key transcription factors plasma differentiation). In lines, as wildtype was found to bind known binding...
ProC Global is a new global clotting assay designed to evaluate the functionality of protein C anticoagulant pathway. It based on ability endogenous activated C, generated by activation Protac, prolong an partial thromboplastin time, and results are expressed in time normalized ratio (PCAT-NR), after normalization. This multicenter trial involving five European laboratories was order determine distinguish patients with without abnormalities The PCAT-NR significantly lower thrombotic history...
Abstract Background. The 1p19q non-codeleted gliomas with IDH mutation, defined as “molecular astrocytomas,” display frequent TP53 mutations and have an intermediate prognosis. We investigated the prognostic impact of copy number-neutral loss heterozygosity (CNLOH) in 17p this population. Methods. analyzed 793 (206 grade II, 377 III, 210 IV) by single nucleotide polymorphism array for mutations. Results. Homodisomy revealed CNLOH was observed 156 cases (19.7%). It more astrocytomas...
Abstract BACKGROUND AZD4547 is a potent oral FGFR1-3 inhibitor. We tested its safety, tolerability, and efficacy in patients presenting relapsed/refractory (r/r) high-grade gliomas (HGGs) with FGFR fusion phase I/II open label multicenter study (NCT02824133). METHODS the was based on two-stage design included adult HGG expressing FGFR-TACC gene (as centrally confirmed by RT-PCR sequencing) relapsing after at least one line of standard chemoradiation. Patients received (AstraZeneca) dose 80mg...
2005 Background: to characterize clinical, molecular and radiological features of diffuse gliomas with FGFR3-TACC3 fusions or FGFR1 mutations, which are both actionable new oral anti-FGFR inhibitors. Methods: We screened for 1112 (861 grade IV, 140 III 111 II) by RT-PCR. performed sequencing hotspot mutations (N546 K656) in 73 midline (8 II, 10 III, 54 affecting cerebellum, spinal cord, brainstem, thalamus diencephalon) 479 hemispheric (170 151 157 II). Results: identified 50 (all IDH...
Abstract PURPOSE Actionable oncogenic fusion FGFR3-TACC3 (F3T3) is found in 3% of gliomas. Our goal was to characterize the clinical, radiological and molecular features patients with F3T3-positive glioma. PATIENTS AND METHODS Overall, we screened 1112 gliomas by RT-PCR (861 WHO grade IV, 140 III 111 II) identified 50 cases. We performed a radiomic case control study. RESULTS F3T3 exclusively IDH wild-type mutually exclusive EGFR amplification (0/38 versus 143/336 F3T3-negative cases,...
Novel chromosomal rearrangements involving tyrosine-kinase receptors FGFR3 and EGFR resulting in actionable fusion proteins with strong oncogenic activity have been recently described glioblastoma (GBM). 602 gliomas [380 grade IV (GBM), 116 III, 106 II] from the Pitié-Salpêtrière brain tumor bank “Onconeurotheque” were analyzed for presence of FGFR3-TACC3 EGFR-SEPT14 by RT-PCR sequencing . We identified 30 patients transcripts: 11 (8 GBM, one two II) 19 (18 GBM III) fusion, including a...