Bartelheim, KerstinNemes, KarolinaSeeringer, AngelaKerl, KorneliusBuechner, JochenBoos, JoachimGraf, NorbertDürken, MatthiasGerss, JoachimHasselblatt, MartinKortmann, Rolf-DieterTeichert von Luettichau, IreneNagel, IngaNygaard, RandiOyen, FlorianQuiroga, EduardoSchlegel, Paul-GerhardtSchmid, IreneSchneppenheim, ReinhardSiebert, ReinerSolano-Paez, PalmaTimmermann, BeateWarmuth-Metz, MonikaFrühwald, Michael Christoph2023-01-252023-01-252016-05-26http://hdl.handle.net/10668/10128Atypical teratoid rhabdoid tumors (AT/RT) are characterized by mutations and subsequent inactivation of SMARCB1 (INI1, hSNF5), a predilection for very young children and an unfavorable outcome. The European Registry for rhabdoid tumors (EU-RHAB) was established to generate a common European database and to establish a standardized treatment regimen as the basis for phase I/II trials. Thus, genetic analyses, neuropathologic and radiologic diagnoses, and a consensus treatment regimen were prospectively evaluated. From 2005 to 2009, 31 patients with AT/RT from four countries were recruited into the registry study Rhabdoid 2007 and treated with systemic and intraventricular chemotherapy. Eight patients received high-dose chemotherapy, 23 radiotherapy, and 17 maintenance therapy. Reference evaluations were performed in 64% (genetic analyses, FISH, MLPA, sequencing) up to 97% (neuropathology, INI1 stain). Germ-line mutations (GLM) were detected in 6/21 patients. Prolonged overall survival was associated with age above 3 years, radiotherapy and achievement of a complete remission. 6-year overall and event-free survival rates were 46% (±0.10) and 45% (±0.09), respectively. Serious adverse events and one treatment-related death due to insufficiency of a ventriculo peritoneal shunt (VP-shunt) and consecutive herniation were noted. Acquisition of standardized data including reference diagnosis and a standard treatment schedule improved data quality along with a survival benefit. Treatment was feasible with significant but manageable toxicity. Although our analysis is biased due to heterogeneous adherence to therapy, EU-RHAB provides the best available basis for phase I/II clinical trials.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/AT/RTEU-RHAB RegistryRhabdoid 2007pediatric brain tumorAntineoplastic Combined Chemotherapy ProtocolsBrain NeoplasmsChildChild, PreschoolCombined Modality TherapyEuropeFemaleGerm-Line MutationHumansInfantInfant, NewbornKaplan-Meier EstimateMalePrognosisRadiotherapy, ConformalRegistriesRhabdoid TumorTreatment FailureTreatment Outcomeresearch article27228363open access10.1002/cam4.7412045-7634PMC4884635https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/cam4.741https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884635/pdf