Chordoma

Diffuse nuclear "TPIT" staining with OTI2G1 in chordoma reflects cross-reactivity driven by conserved T-box structure rather than true TBX19 expression. For the differential diagnosis of sellar lesions, especially poorly differentiated chordoma versus pituitary neuroendocrine tumor, use of more specific clones (eg, CL6251) is recommended.

P2, N=30, Active, not recruiting, Dana-Farber Cancer Institute | N=45 --> 30

Treatment was well tolerated and associated with durable radiographic response with tumor reduction, partial metabolic response on FDG-PET imaging, and clinically significant improvement in neurological symptoms and quality of life. This case highlights the value of molecular tumor board-guided interpretation of genomic alterations and illustrates the potential role of IDH-targeted therapy in select patients with recurrent chordoma.

CYP26A1 expression was most frequent in giant cell tumors of bone. While also detected in a subset of other bone tumors, expression was limited or absent in most benign and malignant lesions, and entirely absent in normal bone tissue. These findings provide novel descriptive insight into CYP26A1 distribution and support further investigation into its role in retinoid-related pathways in bone tumor biology.

In summary, our findings support the differential diagnosis between paediatric PDC and CC. Further, our findings suggest that besides distinct methylome profiles, paediatric PDC and CC are likely driven by distinct pathogenic pathways.

Furthermore, comparison with over 2,000 sarcomas highlighted CN patterns more common in chordoma (i.e. chr1q, chr2, chr7 gains and chr1p, chr3, chr9, chr10, chr13, chr14, chr18 losses) but also revealed shared aberrations, e.g. chr22 loss shared with Gastrointestinal Stromal Tumours (GISTs). This study provides a unifying classification for skull base chordoma, linking distinct genomic architectures to specific transcriptional programs and potential therapeutic vulnerabilities.

P2/3, N=60, Suspended, Centre Leon Berard | Recruiting --> Suspended

P2, N=798, Active, not recruiting, National Cancer Institute (NCI) | Trial primary completion date: May 2027 --> May 2026

D (30 mg/kg) + T (1 mg/kg) had limited antitumor activity in this pediatric population; however, the safety profile was manageable and consistent with the known safety profile in adult patients, with no new safety concerns identified. ClinicalTrials.gov, identifier NCT03837899; EudraCT, identifier 2018-003118-42.

P=N/A, N=400, Active, not recruiting, Ohio State University | Recruiting --> Active, not recruiting | Trial completion date: Dec 2025 --> Dec 2027 | Trial primary completion date: Dec 2025 --> Dec 2026

Combination of camrelizumab and apatinib offered encouraging efficacy with manageable toxicity in chordoma treatment. CDKN2A alterations are associated with worse prognosis and may prove to be a potential biomarker for treatment selection.

A total of 108 studies encompassing 6349 individuals were included. Across six domains, four cross-cutting themes with prognostic and potential theranostic value emerged: copy number alterations, particularly CDKN2A/B loss; SWI/SNF complex dysfunction; stroma-tumor ratio; and immune microenvironment heterogeneity.