Léa Guerrini‐Rousseau
A5077427326- Glioma Diagnosis and Treatment
- Hedgehog Signaling Pathway Studies
- Genetic factors in colorectal cancer
- Childhood Cancer Survivors' Quality of Life
- Neuroblastoma Research and Treatments
- Cancer Genomics and Diagnostics
- Chromatin Remodeling and Cancer
- RNA modifications and cancer
- Sarcoma Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Brain Metastases and Treatment
- Acute Lymphoblastic Leukemia research
- Neuroendocrine Tumor Research Advances
- Testicular diseases and treatments
- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Advanced Electron Microscopy Techniques and Applications
- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Mass Spectrometry Techniques and Applications
- Tumors and Oncological Cases
- Genetics and Neurodevelopmental Disorders
- Ethics and Legal Issues in Pediatric Healthcare
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
Institut Gustave Roussy
2015-2025
Université Paris-Saclay
2014-2025
Inserm
2014-2025
Laboratoire d'études sur les monothéismes
2018-2024
Prédicteurs moléculaires et nouvelles cibles en oncologie
2019
Centre National de la Recherche Scientifique
2014-2018
Laboratoire de Vectorologie et Thérapeutiques Anticancéreuses
2012-2014
Université Paris Cité
2014
Délégation Paris 5
2014
Karolinska Institutet
2014
Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma genes have not been defined and screening guidelines for genetic counselling testing paediatric patients are available. We aimed to assess define these provide evidence future guidelines.
Diffuse intrinsic pontine glioma (DIPG) is one of the most frequent malignant pediatric brain tumor and its prognosis universaly fatal. No significant improvement has been made in last thirty years over standard treatment with radiotherapy. To address paucity understanding DIPGs, we have carried out integrated molecular profiling a large series samples obtained stereotactic biopsy at diagnosis. While chromosomal imbalances did not distinguish DIPG supratentorial tumors on CGHarrays, gene...
Background Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus (CPT) or female breast cancers before age 31 multiple primary belonging to the Li-Fraumeni (LFS) spectrum is, independently familial history, highly suggestive a germline TP53 mutation. The aim this study was determine contribution de novo and mosaic mutations LFS. Methods results Among 328 unrelated patients harbouring mutation identified by Sanger sequencing and/or QMPSF, we could show that had...
PURPOSE The identification of a heritable tumor predisposition often leads to changes in management and increased surveillance individuals who are at risk; however, for many rare entities, our knowledge is incomplete. METHODS Families with childhood medulloblastoma, one the most prevalent malignant brain tumors, were investigated identify predisposing germline mutations. Initial findings extended genomes epigenomes 1,044 medulloblastoma cases from international multicenter cohorts, including...
The cIMPACT-NOW Update 7 has replaced the WHO nosology of "ependymoma, RELA fusion positive" by "Supratentorial-ependymoma, C11orf95-fusion positive". This modification reinforces idea that supratentorial-ependymomas exhibiting implicates C11orf95 (now called ZFTA) gene with or without gene, represent same histomolecular entity. A hot off press molecular study identified distinct clusters DNA methylation class ZFTA fusion-positive tumors. Interestingly, 2 and 4 comprised tumors different...
Abstract Objective Adamantinomatous craniopharyngioma mainly affects children. Excessive weight gain is a major long-term complication. The primary objective of this study was to assess changes in children treated for craniopharyngioma. secondary objectives were identify risk factors excessive and look associations with hypothalamic damage by the tumour or treatment. Design Single-centre retrospective cohort study. Method Children managed at our centre between 1990 2019 included. body mass...
Platelet-derived growth factor receptor A is altered by amplification and/or mutation in diffuse intrinsic pontine glioma (DIPG). We explored vitro on new DIPG models the efficacy of dasatinib, a multi-tyrosine kinase inhibitor targeting this receptor. Gene expression profiles were generated from 41 DIPGs biopsied at diagnosis and compared with signature associated sensitivity/resistance to dasatinib. panel 12 cell lines established biopsy diagnosis, serially passaged, characterized gene...
Germline mutations of suppressor fused homolog (SUFU) predispose to sonic hedgehog (SHH) medulloblastoma. SUFU have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum.We performed a retrospective review all patients with medulloblastoma germline mutation France.Twenty-two from 17 families were identified (median age at diagnosis: 16.5 mo). Macrocrania was present 20 patients, only 5 met diagnostic criteria for NBCCS....
Abstract Background Malignant brain tumors (BT) are among the cancers most frequently associated with constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations in genes. This study analyzed data European “Care for CMMRD” (C4CMMRD) database to describe their clinical characteristics, treatments, and outcome aim of improving its diagnosis/treatment. Methods Retrospective analysis on patients CMMRD malignant BT...
High-risk medulloblastoma is defined by the presence of metastatic disease and/or incomplete resection unfavorable histopathology tumors with MYC amplification. We aimed to assess 3-year progression-free survival (PFS) and define molecular characteristics associated PFS in patients aged 5-19 years newly diagnosed high-risk treated according phase II trial PNET HR+5. All children received postoperative induction chemotherapy (etoposide carboplatin), followed 2 high-dose thiotepa courses (600...
Abstract Gorlin syndrome (MIM 109,400), a cancer predisposition related to constitutional pathogenic variation (PV) of gene in the Sonic Hedgehog pathway ( PTCH1 or SUFU) , is associated with broad spectrum benign and malignant tumors. Basal cell carcinomas (BCC), odontogenic keratocysts medulloblastomas are main tumor types encountered, but meningiomas, ovarian cardiac fibromas sarcomas have also been described. The clinical features risks different depending on causative gene. Due rarity...
Abstract In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic constitutional situations intersect throughout the care pathway. The discovery of potential predisposition in this context is sometimes carried out outside usual framework. This article focuses on views children, adolescents, young adults (AYA) with cancer their parents about experience genomic testing. Forty-eight semi-structured interviews were performed children or AYAs one parents,...
Background & AimsConstitutional mismatch repair deficiency (CMMRD) is a rare recessive childhood cancer predisposition syndrome caused by germline variants. Constitutional microsatellite instability (cMSI) CMMRD diagnostic hallmark and may associate with risk. We quantified cMSI in large patient cohort to explore genotype–phenotype correlations using novel MSI markers selected for blood.MethodsThree CMMRD, 1 Lynch syndrome, 2 control blood samples were genome sequenced >120× depth. A pilot...
Abstract Background The prognosis for Li–Fraumeni syndrome (LFS) patients with medulloblastoma (MB) is poor. Comprehensive clinical data this patient group lacking, challenging the development of novel therapeutic strategies. Here, we present and molecular on a retrospective cohort pediatric LFS MB patients. Methods In multinational, multicenter study, under 21 years class 5 or 4 constitutional TP53 variants were included. mutation status, methylation subgroup, treatment, progression free-...
ABSTRACT Purpose Thalamic gliomas are found predominantly in children and can be classified into two main types with different prognoses management: diffuse midline glioma (DMG) H3K27‐altered low‐grade (LGG). Our aim was to find imaging features distinguishing these tumors develop a diagnostic score. Patients Methods A retrospective study spanning September 1999 May 2021 involved pediatric patients thalamic gliomas, categorized DMG LGG groups. Preoperative imaging, including morphology,...
Abstract Background: The France Genomic Medicine Plan (PFMG) 2025 has established very high throughput genome sequencing (HTS; including paired germline/tumor WGS 60x, WES 150x, and RNAseq) in clinical care for patients with cancer within the framework of 12 indications since March 2020. Results: Two predefined apply to pediatric malignancies led 1475 prescriptions until October 2024, i.e. 48% those all patients. Prescription context “treatment failure” (all tumor types) represents 64%...
Abstract Context Craniopharyngioma is a benign brain tumor with frequent local recurrence or progression after treatment. GH replacement therapy (GHRT) prescribed in children deficiency resulting from childhood-onset craniopharyngioma. Objective To evaluate whether shorter delay of GHRT initiation craniopharyngioma completion increased the risk new event (progression recurrence). Methods Retrospective, observational, monocenter study. We compared cohort 71 patients craniopharyngiomas treated...
Biallelic germline pathogenic variants in one of the four mismatch repair genes (MSH2, MSH6, MLH1 and PMS2) cause a very rare, highly penetrant, childhood-onset cancer syndrome, called constitutional deficiency (CMMRD). The European consortium "Care for CMMRD" (C4CMMRD) was founded Paris 2013 to facilitate international collaboration improve our knowledge this rare predisposition syndrome. Following initial publications on diagnostic criteria surveillance guidelines CMMRD, several partners...
Rhabdoid tumors (RT) are aggressive, rare predominantly affecting young children, characterized by biallelic SMARCB1 gene inactivation. While most alterations acquired de novo, a third of cases exhibit germline alterations, defining Tumors Predisposition Syndrome. With the increased sensitivity next-generation sequencing (NGS), mosaicisms in genes linked to genetic diseases more detectable. This study focuses on exploring notably mosaicism blood samples children with RT and parents, using...
Describe clinical characteristics and outcome of Li-Fraumeni syndrome (LFS)-associated osteosarcomas.