ArticleThe Journal of pathology2019
Integrative genomic analysis of matched primary and metastatic pediatric osteosarcoma.
Article in The Journal of pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 53 citations in OpenAlex.
- Current Evidence for Circulating Tumor DNA in Sarcoma: Challenges and Opportunities for Clinical Application.Journal of surgical oncology · 2026Review
- A conceptual blueprint for "turning cold to hot" in Osteosarcoma: from TME stratification hypotheses to adaptive therapeutic prospects.Cell communication and signaling : CCS · 2026Review
- Mapping Genomic Heterogeneity in Pediatric and Adolescent-Young Adult Sarcomas: Insights from the Italian SAR-GEN2016 and SAR-GEN_ITA Prospective Multicenter Trials.Cancer research communications · 2026Article
- ROLE OF POLYMORPHISMS IN VEGF AND KDR GENES IN OSTEOSARCOMA SUSCEPTIBILITY: A SYSTEMATIC REVIEW.Acta ortopedica brasileira · 2025Review
- Article
- Can a Liquid Biopsy Detect Circulating Tumor DNA With Low-passage Whole-genome Sequencing in Patients With a Sarcoma? A Pilot Evaluation.Clinical orthopaedics and related research · 2025Article
- Article
- A Novel Defined Necroptosis-Related Genes Prognostic Signature for Predicting Prognosis and Treatment of Osteosarcoma.Biochemical genetics · 2024Article
- Evolving copy number gains promote tumor expansion and bolster mutational diversification.Nature communications · 2024Article
- Osteosarcoma PDX-Derived Cell Line Models for Preclinical Drug Evaluation Demonstrate Metastasis Inhibition by Dinaciclib through a Genome-Targeted Approach.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- Subclonal Somatic Copy-Number Alterations Emerge and Dominate in Recurrent Osteosarcoma.Cancer research · 2023Article
- Article
- Distinct genomic features between osteosarcomas firstly metastasing to bone and to lung.Heliyon · 2023Article
- Structurally Complex Osteosarcoma Genomes Exhibit Limited Heterogeneity within Individual Tumors and across Evolutionary Time.Cancer research communications · 2023Article
- Drugging Hijacked Kinase Pathways in Pediatric Oncology: Opportunities and Current Scenario.Pharmaceutics · 2023Review
- The insertion and dysregulation of transposable elements in osteosarcoma and their association with patient event-free survival.Scientific reports · 2022Article
- Hypoxia-immune-related microenvironment prognostic signature for osteosarcoma.Frontiers in cell and developmental biology · 2022Article
- A Comprehensive Understanding of the Genomic Bone Tumor Landscape: A Multicenter Prospective Study.Frontiers in oncology · 2022Article
- Therapeutic vulnerability to PARP1,2 inhibition in RB1-mutant osteosarcoma.Nature communications · 2021Article
- DNA methylation-based classifier and gene expression signatures detect BRCAness in osteosarcoma.PLoS computational biology · 2021Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 3 countries.
Funding
Abstract
Despite being the most common childhood bone tumor, the genomic characterization of osteosarcoma remains incomplete. In particular, very few osteosarcoma metastases have been sequenced to date, critical to better understand mechanisms of progression and evolution in this tumor. We performed an integrated whole genome and exome sequencing analysis of paired primary and metastatic pediatric osteosarcoma specimens to identify recurrent genomic alterations. Sequencing of 13 osteosarcoma patients including 13 primary, 10 metastatic, and 3 locally recurring tumors revealed a highly heterogeneous mutational landscape, including cases of hypermutation and microsatellite instability positivity, but with virtually no recurrent alterations except for mutations involving the tumor suppressor genes RB1 and TP53. At the germline level, we detected alterations in multiple cancer related genes in the majority of the cohort, including those potentially disrupting DNA damage response pathways. Metastases retained only a minimal number of short variants from their corresponding primary tumors, while copy number alterations showed higher conservation. One recurrently amplified gene, KDR, was highly expressed in advanced cases and associated with poor prognosis. © 2019 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.