Second series by the Italian Association of Pediatric Hematology and Oncology of children and adolescents with intracranial ependymoma: an integrated molecular and clinical characterization with a long-term follow-up
| Autor: | Annamaria Buccoliero, Luisa Chiapparini, Felice Giangaspero, Elisabetta Viscardi, Hendrik Witt, Piergiorgio Modena, Pascal Johann, Angela Mastronuzzi, Simone Minasi, Bianca Pollo, Kristian W. Pajtler, Maurizio Mascarin, Francesca R. Buttarelli, Lucia Quaglietta, Maura Massimino, Manila Antonelli, Antonio Ruggiero, Francesco Barretta, Daniele Bertin, Lorenza Gandola, Carlo Patriarca, Alessandra Erbetta, Marco Gessi, Iacopo Sardi, Stefan M. Pfister, Vittoria Donofrio, Luna Boschetti, Isabella Morra, Elisabetta Schiavello, Maria Luisa Garrè |
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| Rok vydání: | 2020 |
| Předmět: |
Oncology
Ependymoma Cancer Research medicine.medical_specialty Long term follow up medicine.medical_treatment Copy number analysis children CDKN2A Internal medicine follow-up medicine molecular events Series (stratigraphy) business.industry Intracranial ependymoma prognosis medicine.disease Radiation therapy Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Neurology (clinical) Pediatric hematology business |
| Zdroj: | Neuro-Oncology. 23:848-857 |
| ISSN: | 1523-5866 1522-8517 |
| Popis: | Background A prospective 2002–2014 study stratified 160 patients by resection extent and histological grade, reporting results in 2016. We re-analyzed the series after a median of 119 months, adding retrospectively patients’ molecular features. Methods Follow-up of all patients was updated. DNA copy number analysis and gene-fusion detection could be completed for 94/160 patients, methylation classification for 68. Results Progression-free survival (PFS) and overall survival (OS) at 5/10 years were 66/58%, and 80/73%. Ten patients had late relapses (range 66–126 mo), surviving after relapse no longer than those relapsing earlier (0–5 y). On multivariable analysis a better PFS was associated with grade II tumor and complete surgery at diagnosis and/or at radiotherapy; female sex and complete resection showed a positive association with OS. Posterior fossa (PF) tumors scoring ≥0.80 on DNA methylation analysis were classified as PFA (n = 41) and PFB (n = 9). PFB patients had better PFS and OS. Eighteen/32 supratentorial tumors were classified as RELA, and 3 as other molecular entities (anaplastic PXA, LGG MYB, HGNET). RELA had no prognostic impact. Patients with 1q gain or cyclin-dependent kinase inhibitor 2A (CDKN2A) loss had worse outcomes, included significantly more patients >3 years old (P = 0.050) and cases of dissemination at relapse (P = 0.007). Conclusions Previously described prognostic factors were confirmed at 10-year follow-up. Late relapses occurred in 6.2% of patients. Specific molecular features may affect outcome: PFB patients had a very good prognosis; 1q gain and CDKN2A loss were associated with dissemination. To draw reliable conclusions, modern ependymoma trials need to combine diagnostics with molecular risk stratification and long-term follow-up. |
| Databáze: | OpenAIRE |
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