Ruth Tatevossian
A5072105991- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Bioinformatics and Genomic Networks
- Neuroblastoma Research and Treatments
- Cancer Genomics and Diagnostics
- Circular RNAs in diseases
- RNA modifications and cancer
- Ocular Oncology and Treatments
- Cancer-related molecular mechanisms research
- RNA Research and Splicing
- Meningioma and schwannoma management
- Epigenetics and DNA Methylation
- Protein Degradation and Inhibitors
- Neurofibromatosis and Schwannoma Cases
- Histiocytic Disorders and Treatments
- Single-cell and spatial transcriptomics
- Cancer, Hypoxia, and Metabolism
- Renal and related cancers
- Sarcoma Diagnosis and Treatment
- Cancer Mechanisms and Therapy
- Vascular Malformations Diagnosis and Treatment
- Genomics and Rare Diseases
- Pancreatic and Hepatic Oncology Research
- Parvovirus B19 Infection Studies
- Hedgehog Signaling Pathway Studies
St. Jude Children's Research Hospital
2016-2025
University of Tennessee Health Science Center
2018
Le Bonheur Children's Hospital
2018
Semmes Murphey Foundation
2018
McMaster Children's Hospital
2017
Queen Mary University of London
2009-2015
University College London
2010-2013
Brain Tumour Research
2013
Queen's Medical Centre
2013
Cancer Research UK
2006-2010
Long-term survival for children with diffuse intrinsic pontine glioma (DIPG) is less than 10%, and new therapeutic targets are urgently required. We evaluated a large cohort of DIPGs to identify recurrent genomic abnormalities gene expression signatures underlying DIPG.Single-nucleotide polymorphism arrays were used compare the frequencies copy number in 43 eight low-grade brainstem gliomas data from adult pediatric (non-DIPG) glioblastomas, profiles using 27 DIPGs, six gliomas, 66...
Purpose BRAF V600E is a potentially highly targetable mutation detected in subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group tumors remains unknown. Patients Methods A combined genetic institutional study patients with PLGGs long-term follow-up was performed (N = 510). Clinical treatment data mutated PLGG (n 99) were compared large international independent cohort mutated-PLGG 180). Results 69 405 (17%) across broad spectrum histologies...
We report genetic aberrations that activate the ERK/MAP kinase pathway in 100% of posterior fossa pilocytic astrocytomas, with a high frequency gene fusions between KIAA1549 and BRAF among these tumours. These were identified from analysis focal copy number gains at 7q34, detected using Affymetrix 250K 6.0 SNP arrays. PCR sequencing confirmed presence five KIAA1549-BRAF fusion variants, along single SRGAP3 RAF1. The resulting genes lack auto-inhibitory domains RAF1, which are replaced...
Infant high-grade gliomas appear clinically distinct from their counterparts in older children, indicating that histopathologic grading may not accurately reflect the biology of these tumors. We have collected 241 cases under 4 years age, and carried out histologic review, methylation profiling, custom panel, genome, or exome sequencing. After excluding tumors representing other established entities subgroups, we identified 130 to be part an "intrinsic" spectrum disease specific infant...
Abstract To evaluate the potential of an integrated clinical test to detect diverse classes somatic and germline mutations relevant pediatric oncology, we performed three-platform whole-genome (WGS), whole exome (WES) transcriptome (RNA-Seq) sequencing tumors normal tissue from 78 cancer patients in a CLIA-certified, CAP-accredited laboratory. Our analysis pipeline achieves high accuracy by cross-validating variants between types, thereby removing need for confirmatory testing, facilitates...
SJMB03 (ClinicalTrials.gov identifier: NCT00085202) was a phase III risk-adapted trial that aimed to determine the frequency and clinical significance of biological variants genetic alterations in medulloblastoma.
BACKGROUND: The nuclear factor-kB (NF-kB) family of transcriptional regulators are central mediators the cellular inflammatory response. Although constitutive NF-kB signaling is present in most human tumours, mutations pathway members rare, complicating efforts to understand and block aberrant activity cancer. METHODS: To identify additional genetic alterations that drive ependymoma, we sequenced whole genomes (WGS) 41 tumours matched normal blood, transcriptomes (RNAseq) 77 tumours....
Despite remarkable advances in the genomic characterization of adult melanoma, molecular pathogenesis pediatric melanoma remains largely unknown. We analyzed 15 conventional melanomas (CMs), 3 arising congenital nevi (CNMs), and 5 spitzoid (SMs), using various platforms, including whole genome or exome sequencing, inversion probe assay, and/or targeted sequencing. CMs demonstrated a high burden somatic single-nucleotide variations (SNVs), with each case containing TERT promoter (TERT-p)...
A few case series in adults have described the characteristics of epithelioid glioblastoma (e-GB), one rarest variants this cancer. We evaluated clinical, radiological, histological and molecular largest to date paediatric e-GB.Review clinical therapy, imaging studies histology was performed patients younger than 22 years with e-GB seen at our institution over 15 years. Sequencing hotspot mutations fluorescence situ hybridization relevant genes were undertaken.Median age diagnosis six 7.6...
To investigate molecular alterations in choroid plexus tumors (CPT) using a genome-wide high-throughput approach to identify diagnostic and prognostic signatures that will refine tumor stratification guide therapeutic options.One hundred CPTs were obtained from multi-institutional tissue clinical database. Copy-number (CN), DNA methylation, gene expression assessed for 74, 36, 40 samples, respectively. Molecular subgroups correlated with parameters outcomes.Unique distinguished carcinomas...
SUMMARY Neuroblastoma is a pediatric cancer arising from the developing sympathoadrenal lineage with complex inter- and intra-tumoral heterogeneity. To chart this complexity, we generated comprehensive cell atlas of 55 neuroblastoma patient tumors, collected two institutions, spanning range clinical, genetic, histologic features. Our combines single-cell/nucleus RNA-seq (sc/scRNA-seq), bulk RNA-seq, whole exome sequencing, DNA methylation profiling, spatial transcriptomics, proteomic...
Abstract Background Langerhans cell histiocytosis (LCH) is a rare proliferative disorder of pathological cells, for which the aetiology and pathogenesis remain largely unknown. Procedure Information on 101 children with LCH registered population‐based Manchester Children's Tumour Registry (MCTR) between 1954 1998 was extracted from records MCTR. This included age, sex, date diagnosis, systems affected at diagnosis follow‐up. Results The overall incidence rate 2.6 cases per million child...
Abstract Background This report documents the clinical characteristics, molecular grouping, and outcome of young children with ependymoma treated prospectively on a trial. Methods Fifty-four (aged ≤3 y) newly diagnosed were St Jude Young Children 07 (SJYC07) trial maximal safe surgical resection, 4 cycles systemic chemotherapy, consolidation therapy using focal conformal radiation (RT) (5-mm target volume), 6 months oral maintenance chemotherapy. Molecular groups determined by tumor DNA...
Report relevance of molecular groups to clinicopathologic features, germline