The NIH pediatric/young adult chordoma clinic and natural history study: Making advances in a very rare tumor

作者：Liny John, Hannah Smith, Maran Ilanchezhian, Robin Lockridge, Karlyne M. Reilly, Margarita Raygada, Eva Dombi, Abby B. Sandler, Barbara J. Thomas, John Glod, Markku Miettinen, Taryn Allen, Josh Sommer, Joan Levy, Shannon Lozinsky, David Dix, Éric Bouffet, Shannon M. MacDonald, Debraj Mukherjee, Carl H. Snyderman, Nicholas R. Rowan, Robert S. Malyapa, Deric M. Park, Christopher R. Heery, Paul A. Gardner, Gregory M. Coté, Sarah Fuller, John A. Butman, Sadhana Jackson, James L. Gulley, Brigitte C. Widemann, Mary Frances Wedekind · 发表于：Pediatric Blood & Cancer · 年份：2023 · DOI：10.1002/pbc.30358 · 被引用次数：9 · 研究领域：Bone Tumor Diagnosis and Treatments、Sarcoma Diagnosis and Treatment、Teratomas and Epidermoid Cysts

BACKGROUND: Chordomas are rare tumors arising from the skull base and spine, with approximately 20 pediatric chordoma cases in the Unitedn States per year. The natural history and optimal treatment of pediatric chordomas, especially poorly differentiated and dedifferentiated subtypes, is incompletely understood. Herein, we present findings from our first National Cancer Institute (NCI) chordoma clinic and a retrospective analysis of published cases of pediatric poorly differentiated chordomas (PDC) and dedifferentiated chordomas (DC). METHODS: Patients less than 40 years old with chordoma were enrolled on the NCI Natural History and Biospecimens Acquisitions Study for Children and Adults with Rare Solid Tumors protocol (NCT03739827). Chordoma experts reviewed patient records, evaluated patients, and provided treatment recommendations. Patient-reported outcomes, biospecimens, and volumetric tumor analyses were collected. A literature review for pediatric PDC and DC was conducted. RESULTS: Twelve patients (median age: 14 years) attended the clinic, including four patients with active disease and three patients with PDC responsive to systemic therapy. Consensus treatment, management, and recommendations were provided to patients. Literature review returned 45 pediatric cases of PDC or DC with variable treatments and outcomes. CONCLUSIONS: A multidisciplinary expert clinic was feasible and successful in improving understanding of pediatric chordoma. While multimodal approaches ha...