BACKGROUND: Case reports have portrayed spinal cord atypical teratoid/rhabdoid tumor (spATRT) as an aggressive form of ATRT. We conducted a retrospective European survey to collect data on clinical characteristics, molecular biology, treatment, and outcome of children with intramedullary spATRT. METHODS: Scrutinizing a French national series and the European Rhabdoid Registry database, we identified 13 patients (median age 32 months; metastatic disease at diagnosis, n = 6). Systemic postoperative chemotherapy was administered to all patients; three received intrathecal therapy and six were irradiated (craniospinal, n = 3; local, n = 3). RESULTS: Median observation time was 8 (range, 1-93) months. Progression-free and overall survival rates at 1 and (2 years) were 35.2% ± 13.9% (26.4% ± 12.9%) and 38.5% ± 13.5% (23.1% ± 11.7%). Four patients (ATRT-SHH, n = 2; ATRT-MYC, n = 1; DNA methylation subgroup not available, n = 1) achieved complete remission (CR); two of them are alive in CR 69 and 72 months from diagnosis. One patient relapsed after CR and is alive with progressive disease (PD) and one died of the disease. Three patients (ATRT-MYC, n = 2; subgroup not available, n = 1) died after 7 to 22 months due to PD after having achieved a partial remission (n = 1) or stabilization (n = 2). Five patients (ATRT-MYC, n = 2; subgroup not available, n = 3) developed early PD and died. One patient (ATRT-MYC) died of intracerebral hemorrhage prior to response evaluation. CONCLUSIONS: Long-term survival is achievable in selected patients with spATRT using aggressive multimodality treatment. Larger case series and detailed molecular analyses are needed to understand differences between spATRT and their inracranial counterparts and the group of extradural malignant rhabdoid tumors.

Department of Pediatric Hematology and Oncology 2nd Faculty of Medicine Charles University Prague Czech Republic

Department of Pediatric Hematology and Oncology University Medical Center Hamburg Eppendorf Hamburg Germany

Department of Pediatric Oncology University Hospital Besançon France

Department of Pediatrics Kepler University Hospital and School of Medicine Johannes Kepler University Linz Austria

Division of Neuropathology Department of Pathology and Neuropathology Kepler University Hospital and School of Medicine Johannes Kepler University Linz Austria

Division of Pediatric Hematology and Oncology Department of Pediatrics and Adolescent Medicine Medical University of Graz Graz Austria

Division of Pediatric Neurooncology German Cancer Research Center Heidelberg Germany

German Cancer Consortium Heidelberg Germany

Gustave Roussy Grand Paris Cancer Campus Department of Childhood and Adolescent Oncology Villejuif France

Hopp Children's Cancer Center Heidelberg Germany

Institute for Medical Statistics Medical University of Graz Graz Austria

Institute of Diagnostic and Interventional Neuroradiology University Hospital Wuerzburg Wuerzburg Germany

Institute of Human Genetics Ulm University and Ulm University Medical Center Ulm Germany

Institute of Neuropathology University Hospital Münster Münster Germany

Laboratory of Genetics Pathology Unit S Anna General Hospital Como Italy

Oncology Department at Hospital Sant Joan de Deu Barcelona Children's Hospital Barcelona Spain

Pediatric Oncology Unit University Hospital Strasbourg France

PSL Research University Institut Curie Pediatric Care and Research Center Paris France

S C Pediatria Fondazione IRCCS Istituto Nazionale Tumori Milan Italy

Swabian Children's Cancer Center University Children's Hospital University Hospital Augsburg Augsburg Germany

University Hospital of Nancy Pediatric Hematology and Oncology Nancy France

West German Proton Therapy Center Essen Clinic for Particle Therapy Essen University Hospital Essen Germany

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