A5016791633- Neurofibromatosis and Schwannoma Cases
- Neuroblastoma Research and Treatments
- Sarcoma Diagnosis and Treatment
- Nerve injury and regeneration
- Chromatin Remodeling and Cancer
- Soft tissue tumor case studies
- Thermal and Kinetic Analysis
- Meningioma and schwannoma management
- Microtubule and mitosis dynamics
- Energetic Materials and Combustion
- Cancer Genomics and Diagnostics
- Bone Tumor Diagnosis and Treatments
- Soft tissue tumors and treatment
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Gene Regulatory Network Analysis
- Chemical Thermodynamics and Molecular Structure
- Nerve Injury and Rehabilitation
- Multiple Myeloma Research and Treatments
- BRCA gene mutations in cancer
- Ocular Surface and Contact Lens
- Gene expression and cancer classification
- Hippo pathway signaling and YAP/TAZ
- Risk and Safety Analysis
- Fungal and yeast genetics research
Ruijin Hospital
2025
Shanghai Jiao Tong University
2025
Hospital del Mar Research Institute
2025
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
2018-2024
Centro de Investigación Biomédica en Red de Cáncer
2017-2023
Universitat Ramon Llull
2004-2023
Institute of Predictive and Personalized Medicine of Cancer
2010-2021
Instituto de Salud Carlos III
2019-2021
Colombian Association of Surgery
2019
Hospital Central Dr. Ignacio Morones Prieto
2015
Data visualization is a crucial tool for data exploration, analysis and interpretation. For the of genomic there lacks to create customizable non-circular plots whole genomes from any species.We have developed karyoploteR, an R/Bioconductor package linear chromosomal representations genome with annotations experimental plotted along them. Plot creation process inspired in R base graphics, main function creating karyoplots no multiple additional functions, including custom functions written...
Abstract Motivation: Statistically assessing the relation between a set of genomic regions and other features is common challenging task in epigenomic analyses. Randomization based approaches implicitly take into account complexity genome without need assuming an underlying statistical model. Summary: regioneR R package that implements permutation test framework specifically designed to work with regions. In addition predefined randomization evaluation strategies, fully customizable allowing...
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, neuroimaging.We used a multistep process, beginning Delphi method involving global disease experts subsequently non-neurofibromatosis clinical experts, patients, foundations/patient advocacy groups.We reached consensus on...
Neurofibromas are one of the most characteristic features neurofibromatosis type 1 (NF1), an inherited autosomal-dominant neurogenetic disorder affecting in 3500 individuals worldwide. These benign tumors mainly consist Schwann cells (SCs) and fibroblasts. Recent evidence demonstrates that somatic mutations at NF1 gene found neurofibromas, but it has not been demonstrated whether SCs, fibroblasts and/or both cell types bear a loss NF1. We recently established culture system allows selective...
Abstract Although germline copy-number variants (CNVs) are the genetic cause of multiple hereditary diseases, detecting them from targeted next-generation sequencing data (NGS) remains a challenge. Existing tools perform well for large CNVs but struggle with single and multi-exon alterations. The aim this work is to evaluate CNV calling working on gene panel NGS their suitability as screening step before orthogonal confirmation in diagnostics strategies. Five (DECoN, CoNVaDING, panelcn.MOPS,...
Research Article10 July 2009Open Access Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene Shyra J. Miller Divisions Experimental Hematology Cancer Biology, Cincinnati Children's Hospital, University College Medicine, Cincinnati, OH, USA Contributed equally to this work. Search for more papers by author Walter Jessen Biomedical Informatics, Hospital Foundation, Tapan Mehta Department Biostatistics, Section on Statistical Genetics, Alabama...
Mosaicism is an important feature of type-1 neurofibromatosis (NF1) on account its impact upon both clinical manifestations and transmission risk. Using FISH MLPA to screen 3500 NF1 patients, we identified 146 individuals harboring gross deletions, 14 whom (9.6%) displayed somatic mosaicism. The high rate mosaicism in patients with deletions supports the postulated idea a direct relationship between new mutation this cancer predisposition syndrome frequency Seven mosaic were type-2, whereas...
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. In this paper we report our experience using cDNA-SSCP/HD analysis as mutational screening approach and double characterization of all at DNA RNA levels. Two hundred eighty-two different (in 374 independent patients) were identified, 140 which novel population. Most these are unique distributed along However, also detected 37 recurrent mutations. Our limited with respect to...
Plexiform neurofibromas (pNFs) are developmental tumors that appear in neurofibromatosis type 1 individuals, constituting a major source of morbidity and potentially transforming into highly metastatic sarcoma (MPNST). pNFs arise after NF1 inactivation cell the neural crest (NC)-Schwann (SC) lineage. Here, we develop an iPSC-based NC-SC vitro differentiation system construct lineage expression roadmap for analysis different 2D 3D NF models. The best model consists generating heterotypic...
Dermal neurofibromas (dNFs) are benign tumors of the peripheral nervous system typically associated with Neurofibromatosis type 1 (NF1) patients. Genes controlling integrity DNA likely to influence number developed because dNFs caused by somatic mutational inactivation NF1 gene, frequently evidenced loss heterozygosity (LOH). We performed a comprehensive analysis prevalence and mechanisms LOH in dNFs. Our study included 518 from 113 was detected 25% (N = 129). The most frequent mechanism...
Patients with neurofibromatosis type 1 (NF1) develop malignant peripheral nerve sheath tumors (MPNST), which are often inoperable and do not respond well to current chemotherapies or radiation. The goal of this study was use comprehensive gene expression analysis identify novel therapeutic targets.Nerve Schwann cells and/or their precursors the tumorigenic cell types in MPNST because loss NF1 gene, encodes RasGAP protein neurofibromin. Therefore, we created a transgenic mouse model,...
Abstract We wanted to implement an NGS strategy globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and control we had in pre-NGS strategies. To do this, developed I2HCP panel, a custom bait library covering 122 genes. improved design, tested different platforms created clinically driven data analysis pipeline. The panel was using training set colorectal cancer, breast ovarian neurofibromatosis patients reached accuracy, analytical...
Cancer cells can develop a strong addiction to discrete molecular regulators, which control the aberrant gene expression programs that drive and maintain cancer phenotype. Here, we report identification of RNA-binding protein HuR/ELAVL1 as central oncogenic driver for malignant peripheral nerve sheath tumors (MPNSTs), are highly aggressive sarcomas originate from Schwann cell lineage. HuR was found be elevated bound multitude cancer-associated transcripts in human MPNST samples. Accordingly,...
The number of Schwann cells is fitted to axonal length in peripheral nerves. This relationship lost when tumorigenic stimuli induce uncontrolled cell proliferation, generating tumours such us neurofibromas and schwannomas. also re-enter the cycle following nerve injury during process Wallerian degeneration. In both cases proliferation finally arrested. We show that neurofibroma, induction Jmjd3 (jumonji domain containing 3, histone lysine demethylase) removes trimethyl groups on lysine-27...
Abstract Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious cancer but no mutation (discovery set). TruSight Cancer (94 genes) a custom panel (122 assessed alongside Eighty-three genes targeted by the More than 99% bases had read depth over 30x in...
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large nerves present in 30%-50% Neurofibromatosis type 1 (NF1) patients. Atypical (ANF) distinct nodular lesions with atypical features on histology that arise from PNFs. The risk and timeline of malignant transformation ANF is difficult to assess. A recent NIH workshop has stratified ANFs separated a subgroup multiple higher termed neurofibromatous neoplasms uncertain biological potential (ANNUBP). We...
Malignant peripheral nerve sheath tumors (MPNSTs) are soft-tissue sarcomas of the nervous system that develop either sporadically or in context neurofibromatosis type 1 (NF1). MPNST diagnosis can be challenging and treatment outcomes poor. We present here a resource consisting genomic characterization 9 widely used human cell lines for their use translational research. NF1-related recapitulated primary copy number profiles, exhibited NF1, CDKN2A, SUZ12/EED tumor suppressor gene (TSG)...
<p>Combination indexes and curves for selected combinations all 9 MPNST cell lines</p>