Clinical Applicability of Liquid Biopsy in Chondrosarcoma
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: laboratory biomarker analysis, Molecular pathology.
- Who it may be relevant to
- Registry conditions: Chondrosarcoma of the Bone. Basic parameters: 18 years — 99 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Austria
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Clinical Applicability of Liquid Biopsy in Intermediate and Malignant Cartilaginous Neoplasms - A Prospective Cohort Study
Overview
Treatment of intermediate (i.e. atypical cartilaginous tumour, ACT) and malignant cartilaginous tumours (i.e. chondrosarcoma) involves surgical resection, while effects of systemic therapies are limited. Thus, it is of importance to diagnose these tumours timely, estimate their prognosis, and detect recurrences at early stages. Apart from diagnosis and disease monitoring with cost-intensive, as well as ionizing radiation-exposing imaging modalities, liquid biopsy constitutes a potent, non-invasive diagnostic, prognostic and predictive tool in oncology. Intermediate/malignant cartilaginous neoplasms are known to frequently harbour specific mutations, as Isocitrate dehydrogenase 1/2 (IDH1/2). These may well be detectable with liquid biopsy, a non-invasive diagnostic measure. Further, other genetic alterations found in primary tumour tissue as well as cytokines/chemokines may be of additive diagnostic and prognostic value. This prospective cohort study aims at answering 4 questions: 1) Possibility to differentiate between ACT and higher-grade chondrosarcoma by measuring mutant IDH1/2 circulating free DNA (cfDNA) in blood stream; 2) Feasibility to detect recurrences during follow-up by monitoring mutant IDH1/2 cfDNA; 3) Prognostic potential of high mutant IDH1/2 cfDNA levels; 4) Additive diagnostic/prognostic value of other genetic alterations found in primary tumour tissue as well as cytokine profiling. Over 2 years, an estimated 60 patients with intermediate/malignant cartilaginous tumours will meet the inclusion criteria. At 11 time points (preoperatively, postoperatively, after 6 weeks, as well as 3, 6, 9, 12, 15, 18, 21 and 24 months), blood samples will be ascertained. The following methodological steps will be carried out: 1) next generation sequencing of primary tumour tissue towards IDH1/2 mutations (and further genetic alterations); 2) selection of digital droplet polymerase chain reaction (ddPCR) assays with patient-specific probes; 3) blood sample collection; 4) cfDNA extraction from blood samples; 5) Quantification of mutant IDH1/2 cfDNA with ddPCR; 6) cytokine and chemokine profiling in blood samples. Patients will be followed-up for 2 years, resulting in an overall study period of 4 years. This study may help to elucidate the role of liquid biopsy in diagnosis and follow-up of patients with chondrosarcoma.
Interventions
- Diagnostic test laboratory biomarker analysis
Laboratory biomarker analysis at several pre-defined time points during follow-up. - Other Molecular pathology
Testing of primary tumour tissue with next generation sequencing towards presence of IDH and other mutations.
Primary outcome measures
- NGS analysis of primary tumour tissue [Time frame: Up to 12 weeks following biopsy/definite surgery]
- Digital droplet PCR [Time frame: From 1 week prior to biopsy/surgery up to 24 months after biopsy/surgery (or in case of development of recurrent disease, up to 24 months following recurrence).]
Secondary outcome measures (1)
- Immune profiling [Time frame: From 1 week prior to biopsy/surgery up to 24 months after biopsy/surgery (or in case of development of recurrent disease, up to 24 months following recurrence).]
Eligibility criteria
Inclusion criteria
- Semimalignant or malignant cartilaginous tumour (atypical cartilaginous tumour, chondrosarcoma G1/2/3, dedifferentiated chondrosarcoma)
- Definite surgery of primary tumour
Exclusion criteria
- Prior tumour-specific treatment (except for biopsy)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Austria · 1 center
- Department of Orthopaedics and Trauma — Graz
Identifiers
NCT: NCT07492823 · 35-361 ex 22/23