A5058372540- Neuroblastoma Research and Treatments
- Cancer, Hypoxia, and Metabolism
- Lung Cancer Research Studies
- Protein Degradation and Inhibitors
- Neuroendocrine Tumor Research Advances
- Cancer therapeutics and mechanisms
- Microtubule and mitosis dynamics
- Ubiquitin and proteasome pathways
- Chromatin Remodeling and Cancer
- Cancer Genomics and Diagnostics
- Cellular transport and secretion
- Genomic variations and chromosomal abnormalities
- Virus-based gene therapy research
- Sarcoma Diagnosis and Treatment
- Protein Kinase Regulation and GTPase Signaling
- Immune cells in cancer
- Genomics and Phylogenetic Studies
- Glioma Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Bayesian Modeling and Causal Inference
- Gene expression and cancer classification
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
Inserm
2015-2024
Institut Curie
2015-2024
Université Paris Sciences et Lettres
2016-2024
La Ligue Contre le Cancer
2023
Centre Hospitalier Régional Universitaire de Brest
2014
Université de Bretagne Occidentale
2014
Établissement Français du Sang
2014
Université Paris-Sud
2014
Université Claude Bernard Lyon 1
2014
Centre National de la Recherche Scientifique
1995-2014
Abstract Summary: More and more cancer studies use next-generation sequencing (NGS) data to detect various types of genomic variation. However, even when researchers have such at hand, single-nucleotide polymorphism arrays been considered necessary assess copy number alterations especially loss heterozygosity (LOH). Here, we present the tool Control-FREEC that enables automatic calculation allelic content profiles from NGS data, consequently predicts regions alteration as gains, losses LOH....
Rab guanosine triphosphatases regulate vesicular transport and membrane traffic within eukaryotic cells. Here, a kinesin-like protein that interacts with triphosphate (GTP)–bound forms of Rab6 was identified. This protein, termed Rabkinesin-6, localized to the Golgi apparatus shown play role in dynamics this organelle. The carboxyl-terminal domain which contains Rab6-interacting domain, inhibited effects Rab6-GTP on intracellular transport. Thus, molecular motor is potential effector...
Purpose For a comprehensive overview of the genetic alterations neuroblastoma, their association and clinical significance, we conducted whole-genome DNA copy number analysis. Patients Methods A series 493 neuroblastoma (NB) samples was investigated by array-based comparative genomic hybridization in two consecutive steps (224, then 269 patients). Results Genomic analysis identified several types profiles. Tumors presenting exclusively whole-chromosome variations were associated with...
Abstract Summary: We present a tool for control-free copy number alteration (CNA) detection using deep-sequencing data, particularly useful cancer studies. The deals with two frequent problems in the analysis of data: absence control sample and possible polyploidy cells. FREEC (control-FREE Copy caller) automatically normalizes segments profiles (CNPs) calls CNAs. If ploidy is known, assigns absolute to each predicted CNA. To normalize raw CNPs, user can provide dataset if available;...
Purpose In neuroblastoma, the ALK receptor tyrosine kinase is activated by point mutations. We investigated potential role of mutations in neuroblastoma clonal evolution. Methods analyzed 54 paired diagnosis–relapse samples using Sanger sequencing. When an mutation was observed one sample, a minor mutated component other sample searched for more than 100,000× deep sequencing relevant hotspot, with sensitivity 0.17%. Results All nine ALK-mutated cases at diagnosis demonstrated same relapse,...
Abstract Noradrenergic and mesenchymal identities have been characterized in neuroblastoma cell lines according to their epigenetic landscapes core regulatory circuitries. However, relationship relative contribution patient tumors remain poorly defined. We now document spontaneous reversible plasticity between the two identities, associated with reprogramming, several models. Interestingly, xenografts cells from each identity eventually harbor a noradrenergic phenotype suggesting that...
Pediatric patients with high-risk neuroblastoma have poor survival rates and urgently need more effective treatment options less side effects. Since novel improved immunotherapies may fill this need, we dissect the immunoregulatory interactions in by single-cell RNA-sequencing of 24 tumors (10 pre- 14 post-chemotherapy, including 5 pairs) to identify strategies for optimizing immunotherapy efficacy. Neuroblastomas are infiltrated natural killer (NK), T B cells, immunosuppressive myeloid...
We present SVDetect, a program designed to identify genomic structural variations from paired-end and mate-pair next-generation sequencing data produced by the Illumina GA ABI SOLiD platforms. Applying both sliding-window clustering strategies, we use anomalously mapped read pairs provided current short aligners localize rearrangements classify them according their type, e.g. large insertions-deletions, inversions, duplications balanced or unbalanced inter-chromosomal translocations....
Abstract Medulloblastoma is the most frequent malignant paediatric brain tumour. The activation of Wnt/β‐catenin pathway occurs in 10‐15% medulloblastomas and has been recently described as a marker for favourable patient outcome. We report series 72 evaluated β‐catenin protein expression, CTNNB1 mutations, comparative genomic hybridization. Gene expression profiles were also available subset 40 cases. Immunostaining showed extensive nuclear staining (>50% tumour cells) six cases focal...
Neuroblastoma is characterized by two distinct types of genetic profiles, consisting either numerical or segmental chromosome alterations. The latter are associated with a higher risk relapse, even when occurring together We explored the role alterations in tumor progression and possibility evolution from indolent to aggressive genomic types.Array-based comparative hybridization data 394 neuroblastoma samples were analyzed linked clinical data.Integration ploidy indicated that pseudotriploid...
Purpose: Neuroblastoma displays important clinical and genetic heterogeneity, with emergence of new mutations at tumor progression.Experimental Design: To study clonal evolution during treatment follow-up, an innovative method based on circulating cell-free DNA (cfDNA) analysis by whole-exome sequencing (WES) paired target was realized in sequential liquid biopsy samples 19 neuroblastoma patients.Results: WES the primary cfDNA diagnosis showed overlap single-nucleotide variants (SNV) copy...
To evaluate the impact of a predefined gene expression-based classifier for clinical risk estimation and cytotoxic treatment decision making in neuroblastoma patients.Gene expression profiles 440 internationally collected specimens were investigated by microarray analysis, 125 which examined prospectively. Patients classified as either favorable or unfavorable 144-gene prediction analysis microarrays (PAM) established previously on separate set 77 patients. PAM classification results...
EWSR1-FLI1, the chimeric oncogene specific for Ewing sarcoma (EwS), induces a cascade of signaling events leading to cell transformation. However, it remains elusive how genetically homogeneous EwS cells can drive heterogeneity transcriptional programs. Here, we combine independent component analysis single-cell RNA sequencing data from diverse types and model systems with time-resolved mapping EWSR1-FLI1 binding sites open chromatin regions characterize dynamic cellular processes associated...
Abstract Rhabdoid tumours (RTs) are highly aggressive of infancy, frequently localized in the central nervous system (CNS) where they termed atypical teratoid/rhabdoid (AT/RTs) and characterized by bi-allelic inactivation SMARCB1 tumour suppressor gene. In this study, temporal control tamoxifen injection Smarcb1 flox/flox ;Rosa26-Cre ERT2 mice, we explore phenotypes associated with at different developmental stages. Injection before E6, birth or 2 months age recapitulates previously...
// Alex Cazes 1,2 , Lucille Lopez-Delisle Konstantina Tsarovina 3 Cécile Pierre-Eugène Katleen De Preter 4 Michel Peuchmaur 5,6 André Nicolas 7 Claire Provost 8 Caroline Louis-Brennetot Romain Daveau Candy Kumps Ilaria Cascone 9 Gudrun Schleiermacher 1,2,10 Aurélie Prignon Frank Speleman Hermann Rohrer Olivier Delattre and Isabelle Janoueix-Lerosey 1 Inserm U830, 26 rue d'Ulm, 75005 Paris, France. 2 Institut Curie, Centre de Recherche, Research Group Developmental Neurobiology, Max Planck...
Rab6 GTPase regulates intracellular transport at the level of Golgi complex. Using yeast two‐hybrid screen, we have isolated two clones that specifically interact with three isoforms present in mammalian cells (Rab6A, A′ and B). The cDNAs encode proteins 976 1120 amino acids (calculated molecular mass 112 128 kDa, respectively) named Rab6IP2A Rab6IP2B (for Interacting Protein 2). likely correspond to spliced variants same gene. Rab6IP2s no significant homology other known proteins, including...