Clinical Applicability of Liquid Biopsy in Chondrosarcoma

NCT07492823 | Not Yet Recruiting

• 1 other identifier: 35-361 ex 22/23
• Study Type: observational
• Target: 60
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Chondrosarcoma of the Bone

Keywords

chondrosarcoma; liquid biopsy; chemokine profiling; atypical cartilaginous tumour

Outcome Measures

Primary Outcomes (2)

• NGS analysis of primary tumour tissue

  Analysis of primary tumour tissue with next generation sequencing for presence of IDH and other mutations

  Up to 12 weeks following biopsy/definite surgery

• Digital droplet PCR

  Analyse blood samples obtained ad pre-defined time points during follow-up with digital droplet PCR towards presence of patient-specific mutations.

  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 Outcomes (1)

• Immune profiling

  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).

Study Arms (1)

Patient cohort

Patients diagnosed with atypical cartilaginous tumours or chondrosarcomas undergoing surgery.

Diagnostic Test: laboratory biomarker analysis; Other: Molecular pathology

Interventions

laboratory biomarker analysis DIAGNOSTIC_TEST

Laboratory biomarker analysis at several pre-defined time points during follow-up.

Patient cohort

Molecular pathology OTHER

Testing of primary tumour tissue with next generation sequencing towards presence of IDH and other mutations.

Patient cohort

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients (age 18 - 99 years) diagnosed with semimalignant (atypical cartilaginous tumour) or malignant (chondrosarcoma G1/2/3, dedifferentiated chondrosarcoma) cartilaginous neoplasm undergoing surgery at a single tertiary sarcoma centre.

You may qualify if:

• Semimalignant or malignant cartilaginous tumour (atypical cartilaginous tumour, chondrosarcoma G1/2/3, dedifferentiated chondrosarcoma)
• Definite surgery of primary tumour

You may not qualify if:

• Prior tumour-specific treatment (except for biopsy)

Sponsors & Collaborators

• Medical University of Graz: lead

Study Sites (1)

Department of Orthopaedics and Trauma

Graz, Styria, 8036, Austria

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples, tissue samples of primary tumour.

MeSH Terms

Conditions

Chondrosarcoma

Condition Hierarchy (Ancestors)

Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 16, 2026
• First Posted: March 25, 2026
• Study Start: June 1, 2026
• Primary Completion (Estimated): May 31, 2030
• Study Completion (Estimated): May 31, 2030
• Last Updated: March 25, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

AU (1)