Bone Cancer

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.

Recognition of gene fusion signatures not only enhances diagnostic precision but also opens avenues for targeted therapy in selected cases. Continued molecular investigation and case accumulation are necessary to validate the biological behavior and therapeutic implications of many of these newly recognized entities.

The H3-3A gene sequencing assay demonstrated a sensitivity of 87.16% and an absolute specificity of 100% among the cases analyzed in the study. Determination of the H3-3A gene mutation by sequencing is a highly sensitive and absolutely specific diagnostic tool for the diagnosis of GCTB and differentiation from its histologic mimics.

There is only one other case that has been documented of a β-hCG-producing GCTBoccurring in the base of the skull with secondary aneurysmal bone cyst-like changes.This appears to be the first reported instance of β-hCG-secreting GCTB in the gnathicbones. This case exemplifies the diagnostic challenges of rare presentations of GCTBand alerts clinicians to the potential misleading presentation of hormone expression.

Aggressive lesions demonstrate reduced lymphocyte infiltration and increased mast cell density, a pattern particularly evident in GCTs of bone. This imbalance may contribute to their aggressive behavior by enabling them to escape host immune regulation.

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.

Higher PD-L1 mRNA expression correlated with accelerated tumor growth in extremity GCTB. These exploratory findings suggest PD-L1 may serve as a potential biomarker of tumor aggressiveness, warranting validation in larger cohorts.

P4, N=40, Recruiting, Shanghai Jiao Tong University Affiliated Sixth People's Hospital | Not yet recruiting --> Recruiting

P4, N=40, Recruiting, Shanghai Jiao Tong University Affiliated Sixth People's Hospital | Not yet recruiting --> Recruiting

P4, N=40, Not yet recruiting, Shanghai Jiao Tong University Affiliated Sixth People's Hospital

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