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Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort
M. Benesch, K. Nemes, P. Neumayer, M. Hasselblatt, B. Timmermann, B. Bison, G. Ebetsberger-Dachs, F. Bourdeaut, C. Dufour, V. Biassoni, A. Morales La Madrid, N. Entz-Werle, V. Laithier, F. Quehenberger, S. Weis, D. Sumerauer, R. Siebert, S. Bens,...
Language English Country United States
Document type Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't
PubMed
31571386
DOI
10.1002/pbc.28022
Knihovny.cz E-resources
- MeSH
- Child MeSH
- DNA Helicases genetics MeSH
- SMARCB1 Protein genetics MeSH
- Nuclear Proteins genetics MeSH
- Infant MeSH
- Combined Modality Therapy MeSH
- Humans MeSH
- Survival Rate MeSH
- Biomarkers, Tumor genetics MeSH
- Spinal Cord Neoplasms genetics mortality pathology therapy MeSH
- Follow-Up Studies MeSH
- Child, Preschool MeSH
- Prognosis MeSH
- Retrospective Studies MeSH
- Rhabdoid Tumor genetics mortality pathology therapy MeSH
- Teratoma genetics mortality pathology therapy MeSH
- Transcription Factors genetics MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Multicenter Study MeSH
- Research Support, Non-U.S. Gov't MeSH
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 Oncology University Hospital Besançon France
Hopp Children's Cancer Center Heidelberg Germany
Institute for Medical Statistics Medical University of Graz Graz Austria
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
University Hospital of Nancy Pediatric Hematology and Oncology Nancy France
References provided by Crossref.org
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