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The mutational landscape of spinal chordomas and their sensitive detection using circulating tumor DNA
Open accessAbstract
Background: Chordomas are the most common primary spinal column malignancy in the United States. The aim of this study was to determine whether chordomas may be detected by evaluating mutations in circulating tumor DNA (ctDNA). Methods: Thirty-two patients with a biopsy-confirmed diagnosis of chordoma had blood drawn pre-operatively and/or at follow-up appointments. Mutations in the primary tumor were identified by whole exome sequencing and liquid biopsy by ddPCR and/or RACE-Seq was used to detect one or more of these mutations in plasma ctDNA at concurrent or later time points. Results: At the time of initial blood draw, 87.1% of patients were ctDNA positive (P <.001). Follow-up blood draws in twenty of the patients suggest that ctDNA levels may reflect the clinical status of the disease. Patients with positive ctDNA levels were more likely to have greater mutant allele frequencies in their primary tumors (P = .004) and undergo radiotherapy (P = .02), and the presence of ctDNA may correlate with response to systemic chemotherapy and/or disease recurrence. Conclusions: Detection of ctDNA mutations may allow for the detection and monitoring of disease progression for chordomas.
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In chondrosarcoma and chordoma, mutation- and methylation-based strategies may be informative in selected molecularly defined cases.
“In chondrosarcoma and chordoma, mutation- and methylation-based strategies may be informative in selected molecularly defined cases, but these approaches are not universally applicable across all patients [ 18 , 19 , 20 , 38 ].”
From Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas (2026) · cites this paper as [38]
Mutation- and methylation-based strategies are not universally applicable across all chondrosarcoma and chordoma patients.
“In chondrosarcoma and chordoma, mutation- and methylation-based strategies may be informative in selected molecularly defined cases, but these approaches are not universally applicable across all patients [ 18 , 19 , 20 , 38 ].”
From Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas (2026) · cites this paper as [38]
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Alabid, I., Yousef, A. J., Patni, M. M., Aloti, R. A., Qassim, Z. A.-A. M., Alothman-Agha, A. A., Hamdy, H. A., Noury, F. M., & Abdelfattah, M. T. (2026) · Cells · doi:10.3390/cells15141271
Metadata
- Authors
- Mattox, A. K., Yang, B., Douville, C., Lo, S.-F., Sciubba, D., Wolinsky, J. P., Gokaslan, Z. L., Robison, J., Blair, C., Jiao, Y., & Bettegowda, C.
- Affiliations
- Johns Hopkins University (US)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Northwestern University (US)
- Brown University (US)
- Mayo Clinic in Florida (US)
- Corresponding author
- Bettegowda, Chetan
- ORCID
- Venue
- Neuro-Oncology Advances
- Publisher
- Oxford University Press (OUP)
- Published
- 2020-12-08
- Volume
- 3
- Issue
- 1
- Pages
- vdaa173-vdaa173
- ISSN
- 2632-2498 (ISSN-L)
- PMC
- PMC7850091
- OpenAlex
- W3111645267
- Cited by
- 21
- References
- 22
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 4 · 2023: 3 · 2022: 7
- FWCI
- 1.88
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Neuro-Oncology Advances (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Chordoma Foundation
- AO Spine Young Investigators Grant
- Burroughs Wellcome Career Award for Medical Scientists
- Doris Duke Charitable Foundation (2014107)
- CAMS Innovation Fund for Medical Sciences (CIFMS 2016-I2M-1-001)
- Topics
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone Tumor Diagnosis and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Surgery › Testicular diseases and treatments
- Keywords
- spinal chordoma, circulating tumor DNA, liquid biopsy, tumor mutation profile, ctDNA detection, disease surveillance, recurrence, mutant allele frequency, radiotherapy
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