Evidence map›Paper›PMID 42424099›Full record

ArticleCancer2026

Analysis of a large osteosarcoma sequencing data set elucidates patterns of genomic alterations.

Hannah G Bousquet, Zheng Kuang, Lorena Lazo de la Vega, Evelina Ceca, Julia Schiantarelli, Julius Honecker, Matthew C Hiemenz, Suzanne J Forrest, Katherine A Janeway

Abstract read
In one paragraph

Article in Cancer, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Hannah G BousquetDana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts, USA.ORCID https://orcid.org/0000-0003-0914-7212
Zheng KuangFoundation Medicine, Inc, Cambridge, Massachusetts, USA.
Lorena Lazo de la VegaDana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts, USA.
Evelina CecaDana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts, USA.
Julia SchiantarelliDana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts, USA.
Julius HoneckerFoundation Medicine GmbH, Penzberg, Germany.
Matthew C HiemenzFoundation Medicine, Inc, Cambridge, Massachusetts, USA.
Suzanne J ForrestDana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts, USA.
Katherine A JanewayDana-Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School, Boston, Massachusetts, USA.

Funding

PanMass Challenge Midnight Riders Team
6 · The paper itself

Abstract

backgroundGenomic complexity and small case numbers make statistically robust assessment of mutational patterns in osteosarcoma difficult. The authors analyzed a large cohort of targeted next-generation sequencing data from osteosarcoma cases from young patients submitted for clinical testing to Foundation Medicine.

methodsThe osteosarcoma cohort included 653 patients: 109 pediatric (males, <13 years old; females, <12 years old), 246 adolescent (males, 13-17 years old; females, 12-17 years old), and 298 young adult (males and females, 18-40 years old). Sequencing from osteosarcoma cases was compared to a pan-cancer cohort comprising 37,947 patients ≤40 years old.

resultsGenes commonly altered and significantly enriched (p < .0001) for alterations in osteosarcoma compared to other cancers were TP53 (55%), RB1 (22%), GID4 (26%), MYC (17%), and CCND3 (16%). Less commonly altered genes also significantly enriched (p < .0001) for alterations in osteosarcoma included AURKB (odds ratio [OR], 28.0), NCOR1 (OR, 8.2), and BCL2L2 (OR, 8.9). Fisher exact tests demonstrated mutual exclusivity between MDM2 amplification and TP53 inactivation and between RB1 inactivation and CDK4 amplification or CDKN2A/B deletion. Chi-square tests and binomial regression revealed statistically significant differences in genomic events by age, including frequent amplification of CDK4 and MDM2 in young adults and MYC, CCND3, and CCNE1 in pediatric and adolescent cases.

conclusionsNovel findings from this statistically rigorous analysis of a large patient population include: identifying genes of interest in osteosarcoma that are more often altered when compared to other cancers; identifying MYC and CCND3 amplification as significantly more prevalent in osteosarcoma diagnosed in childhood; and proving mutual exclusivity and co-occurrence with statistical robustness.

Indexed as

Bone NeoplasmsOsteosarcomaAdolescentAdultChildCyclin D3FemaleGenomicsHigh-Throughput Nucleotide SequencingHumansMaleMutationProto-Oncogene Proteins c-mycTumor Suppressor Protein p53Young AdultCCND3 protein, humanCyclin D3MYC protein, humanProto-Oncogene Proteins c-mycTP53 protein, humanTumor Suppressor Protein p53genomicsosteosarcomapediatricsprecision medicine

Identifiers

PMID42424099
PMCPMC13348730

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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.