Chordoma

FISH detection of NR4A3 gene rearrangements provides a crucial value for the diagnosis. It needs to be differentiated from myoepithelial tumors, chordomas and myxoid liposarcomas.

MIR31 deletion upregulates LYN, enhancing stiffness perception and tipping the balance toward O-GlcNAc addition to NICD1, finally resulting in mechanoadaptation- and tumor stemness-driven recurrence. Consequently, MIR31 deletion is a potential biomarker for recurrence and patient stratification in Notch- or OGT-targeted therapies.

P=N/A, N=140, Not yet recruiting, The first affiliated hostipal of nanchang university; The first affiliated hostipal of nanchang university

P2, N=88, Not yet recruiting, Shanghai Proton and Heavy Ion Center; The Clinical Technology Research And Development Center of Shanghai Proton and Heavy Ion Center

P2, N=88, Not yet recruiting, The Clinical Technology Research And Development Center of Shanghai Proton and Heavy Ion Center; The Clinical Technology Research And Development Cent

This study advances understanding of the chordoma immune landscape by integrating spatial, transcriptomic, and TCR data. The findings highlight systemic and local immune dynamics, reveal tumor-specific TCR motifs, and identify potential therapeutic targets. These insights provide a foundation for developing personalized immunotherapies to overcome immune suppression and enhance anti-tumor immunity in chordomas.

Liquid biopsy holds strong potential for transforming bone tumor care. Its clinical adoption depends on further validation through standardized methods and large-scale studies.

P=N/A, N=20, Recruiting, Quironsalud | Trial primary completion date: May 2025 --> May 2027

P1/2, N=46, Recruiting, Memorial Sloan Kettering Cancer Center | N=11 --> 46

We speculated that both TBXT and SMARCE1 might indirectly promote EGFR signalling to drive chordoma cell proliferation and survival, although the direct interaction between TBXT and SMARCE1 is unknown. To our knowledge, this is the first report of a patient with a spinal chordoma after CCM treatment, suggesting that SMARCE1 is a candidate pathological factor in chordoma.

International, multicentric registries are essential for studying rare diseases like primary spine tumors, enabling robust data collection, improved statistical power, and broader applicability of findings across diverse clinical settings. Ongoing prospective data collection through PTRON will further refine evidence-based care for these rare and challenging conditions.

P=N/A, N=100, Recruiting, Italian Sarcoma Group | Trial completion date: Sep 2025 --> Dec 2026 | Trial primary completion date: Sep 2025 --> Dec 2026