A5102988453- Glioma Diagnosis and Treatment
- Fetal and Pediatric Neurological Disorders
- Sarcoma Diagnosis and Treatment
- Vascular Malformations Diagnosis and Treatment
- Meningioma and schwannoma management
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Tumors and Oncological Cases
- Neurofibromatosis and Schwannoma Cases
- Polyomavirus and related diseases
- Neuroblastoma Research and Treatments
- Genetic factors in colorectal cancer
- Pituitary Gland Disorders and Treatments
- Immune cells in cancer
- Renal and related cancers
- Fibroblast Growth Factor Research
- Hedgehog Signaling Pathway Studies
- Adrenal and Paraganglionic Tumors
- Full-Duplex Wireless Communications
- Salivary Gland Tumors Diagnosis and Treatment
- Ear and Head Tumors
- Vascular Tumors and Angiosarcomas
- Ubiquitin and proteasome pathways
- Sarcoidosis and Beryllium Toxicity Research
- Cancer Mechanisms and Therapy
Institut de Psychiatrie et Neurosciences de Paris
2021-2025
Université Paris Cité
2019-2025
Inserm
2021-2025
Centre Hospitalier Sainte-Anne
2017-2025
Sorbonne Paris Cité
2019-2025
Université de technologie de belfort-montbéliard
2015-2019
Hôpital Lariboisière
2015-2017
Abstract Clear cell meningioma (CCM) is a rare grade II histopathological subtype that usually occurs in young patients and displays high recurrence rate. Germline SMARCE1 mutations have been described hereditary forms of this disease more recently small syndromic sporadic CCM series. The diagnostic value distinguishing between other variants has not yet established. aim our study was to investigate the status series CCMs its morphological mimickers. We compared performance an anti‐SMARCE1...
<title>Abstract</title> DNA methylation analysis has become an essential diagnostic assay for classifying tumours of the central nervous system (CNS). However, this test requires additional resources and time compared to conventional histopathological diagnosis using haematoxylin eosin (H&E) stained tissue sections, which are available globally. Here, we propose reduce resource requirements Hetairos, artificial intelligence (AI) algorithm that predicts 102 methylation-based CNS tumour...
To report two cases of primary retinal ependymoma occurring in adults, both enucleated following initial suspicion uveal melanoma. Uveal melanoma is the most frequent tumor eye adults but other rare benign intraocular tumors such as leiomyoma, adenoma or ependymomas may also occur. diagnose them properly critical to adapt patient's management, prognosis and follow-up. Ependymomas are exquisitely glial arising from retina, with only three reported yet. Primary clinical diagnosis distinction...
FET:CREB fusions have been described in a variety of tumors from various phenotypes. Recently, these fusion transcripts were reported intracranial tumors, variably named mesenchymal myxoid or angiomatoid fibrous histiocytomas. Controversy remains concerning the terminology for tumors. Here, we report 11 cases central nervous system with proven fusion. Most DNA methylation profiles not classifiable using Heidelberg Brain Tumor Sarcoma Classifier (v11b4/v12.2). However, by unsupervised t-SNE...
A new brain tumor entity occurring in early childhood characterized by a somatic BCL6 corepressor gene internal tandem duplication was recently described. The aim of this study to describe the radiologic pattern these tumors and correlate with histopathologic findings.This retrospective, noninterventional included 10 children diagnosed CNS tumor, either ribonucleic acid-sequencing analysis or deoxyribonucleic acid methylation analysis. Clinical, radiologic, data were collected....
Embryonal tumors with multilayered rosettes, C19MC-altered, are brain occurring in young children, which were clearly defined the 2016 World Health Organization classification of central nervous system neoplasms. Our objective was to describe multimodal imaging characteristics this new entity.We performed a retrospective monocentric review embryonal and looked for rosettes confirmed C19MC alteration. We gathered morphologic data, as well DWI PWI data (using arterial spin-labeling DSC).We...
Rosette-forming glioneuronal tumour (RGNT) is a rare central nervous system (CNS) World Health Organization (WHO) grade 1 brain neoplasm. According to the WHO 2021, essential diagnostic criteria are 'biphasic histomorphology with neurocytic and glial component, uniform neurocytes forming rosettes and/or perivascular pseudorosettes associated synaptophysin expression' DNA methylation profile of RGNT whereas 'FGFR1 mutation co-occurring PIK3CA NF1 mutation' desirable criteria.We report series...
Abstract Background Diffuse midline gliomas (DMG) are pediatric tumors with negligible 2-year survival after diagnosis characterized by their ability to infiltrate the central nervous system. In hope of controlling local growth and slowing disease, all patients receive radiotherapy. However, distant progression occurs frequently in DMG patients. Current clues as what causes tumor infiltration circle mainly around microenvironment, but there currently no known determinants predict degree...
Smoothened inhibitors (SMOi) have shown activity in Sonic Hedgehog (SHH) medulloblastoma, however this therapeutic class was not developed children due to severe effects reported on growth. We hereby report long-term follow-up of young patients treated with SMOi for recurrent medulloblastoma.Clinical data response and toxicity from vismodegib or sonidegib 2011 2019 a SHH medulloblastoma were retrospectively reviewed. Methylation analysis whole exome sequencing performed whenever possible.All...
Abstract Aims Dysembryoplastic neuroepithelial tumour (DNT) is a glioneuronal that challenging to diagnose, with wide spectrum of histological features. Three histopathological patterns have been described: specific DNTs (both the simple form and complex form) comprising element, also non‐specific/diffuse which lacks it, has unclear phenotype–genotype correlations numerous differential diagnoses. Methods We used targeted methods (immunohistochemistry, fluorescence in situ hybridisation...
Abstract Pilocytic astrocytomas (PA) typically exhibit distinct clinical, radiological, histopathological, and genetic features. DNA-methylation profiling distinguishes PA according to their location (infratentorial, midline, hemispheric, or spinal). In the hemispheric location, distinguishing from glioneuronal tumors remains a common diagnostic challenge for neuropathologists. Furthermore, current version of DKFZ classifier seems have difficulty separating them gangliogliomas. this study,...
Rosai-Dorfman disease is a rare entity that has been described as lymphadenopathy in young patients. Extranodal forms of this have previously observed. The etiology remains unknown, relationships with the IgG4-related sclerotic detected. Herein, case meningeal involvement and reported.A biopsy 35-year-old woman who had 6-month history intermittent headache was performed after MRI examination showing diffuse leptomeningeal enhancement without cerebral parenchymal involvement.A mixed...
Abstract Background ELP1 pathogenic variants (PV) have been recently identified as the most frequent predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome. Methods We retrospectively reviewed clinical and data of a French series 29 ELP1-mutated MB. Results All patients developed SHH-MB, with biallelic inactivation PTCH1 found 24 tumors. Other recurrent alterations encompassed TP53 pathway activation...