ArticleOncotarget2016
Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Sarcomas of the sellar region: a systematic review.Pituitary · 2021Pooled it
- Recurrent Dedifferentiated Clival Chondrosarcoma Presenting 32 Years after Initial Treatment: A Case Report.Journal of neurological surgery reports · 2026Article
- Dedifferentiated Chondrosarcoma: Current Advances and Future Perspectives.Current treatment options in oncology · 2026Review
- Article
- Advances in the Molecular Biology of Chondrosarcoma for Drug Discovery and Precision Medicine.Cancers · 2025Review
- Establishment and characterization of TK-DDCS1: a novel IDH1 mutated dedifferentiated chondrosarcoma cell line.Human cell · 2025Article
- Liquid Biopsy for Spinal Tumors: On the Frontiers of Clinical Application.Global spine journal · 2025Article
- Clinico-Genomic Profiling of Conventional and Dedifferentiated Chondrosarcomas Reveals TP53 Mutation to Be Associated with Worse Outcomes.Clinical cancer research : an official journal of the American Association for Cancer Research · 2023Article
- Dedifferentiated Chondrosarcoma: Diagnostic Controversies and Emerging Therapeutic Targets.Current oncology reports · 2023Review
- Dedifferentiated Chondrosarcoma from Molecular Pathology to Current Treatment and Clinical Trials.Cancers · 2023Review
- Primary dedifferentiated chondrosarcoma of the lung with a 4-year history of breast cancer: A case report.World journal of clinical cases · 2023Article
- Distinct IDH1/2-associated Methylation Profile and Enrichment ofCancer research communications · 2023Article
- [Cartilage tumors: morphology, genetics, and current aspects of target therapy].Der Pathologe · 2020Review
- Genomic Profiling Identifies Association ofClinical cancer research : an official journal of the American Association for Cancer Research · 2020Article
- Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease.Molecular genetics & genomic medicine · 2019Article
- H3K27me3 deficiency defines a subset of dedifferentiated chondrosarcomas with characteristic clinicopathological features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Absence of EIF1AX, PPM1D, and CHEK2 mutations reported in Thyroid Cancer Genome Atlas (TCGA) in a large series of thyroid cancer.Endocrine · 2019Article
- Pituitary abscess: clinical manifestations, diagnosis and treatment of 66 cases from a large pituitary center over 23 years.Pituitary · 2017Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dedifferentiated chondrosarcoma (DDCS) is a rare disease with a dismal prognosis. DDCS consists of two morphologically distinct components: the cartilaginous and noncartilaginous components. Whether the two components originate from the same progenitor cells has been controversial. Recurrent DDCS commonly displays increased proliferation compared with the primary tumor. However, there is no conclusive explanation for this mechanism. In this paper, we present two DDCSs in the sellar region. Patient 1 exclusively exhibited a noncartilaginous component with a TP53 frameshift mutation in the pathological specimens from the first surgery. The tumor recurred after radiation therapy with an exceedingly increased proliferation index. Targeted next-generation sequencing (NGS) revealed the presence of both a TP53 mutation and a PTEN deletion in the cartilaginous and the noncartilaginous components of the recurrent tumor. Fluorescence in situ hybridization and immunostaining confirmed reduced DNA copy number and protein levels of the PTEN gene as a result of the PTEN deletion. Patient 2 exhibited both cartilaginous and noncartilaginous components in the surgical specimens. Targeted NGS of cells from both components showed neither TP53 nor PTEN mutations, making Patient 2 a naïve TP53 and PTEN control for comparison. In conclusion, additional PTEN loss in the background of the TP53 mutation could be the cause of increased proliferation capacity in the recurrent tumor.
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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.