دورية أكاديمية
NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses
| العنوان: | NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses |
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| المؤلفون: | Nemes, Karolina, Bens, Susanne, Johann, Pascal D, Steinbügl, Mona, Gruhle, Miriam, Kachanov, Denis, Teleshova, Margarita, Hauser, Peter, Simon, Thorsten, Tippelt, Stephan, Eberl, Wolfgang, Woessmann, Wilhelm, Kratz, Christian, Abbink, Floor, Hernáiz-Driever, Pablo, Eyrich, Matthias, Sumerauer, David, Milde, Till, Reinhard, Harald, Leipold, Alfred, de Wetering, Marianne v, Gil-da-Costa, Maria João, Ebetsberger-Dachs, Georg, Marques, Carmen Hernandez, Bauer, Nina, Biassoni, Veronica, Meneses, Clarice Franco, Knirsch, Stephanie, Lauten, Melchior, Gerber, Nicolas U, Chada, Martin, Kerl, Kornelius, Lemmer, Andreas, Heidrun, Boztug, Kuhlen, Michaela, Furtwängler, Rhoikos, Kordes, Uwe, Schneppenheim, Reiner, Vokuhl, Christian, Hasselblatt, Martin, Kröncke, Thomas, Bison, Brigitte, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, Siebert, Reiner, Frühwald, Michael C |
| المصدر: | Neuro-Oncology ; volume 24, issue Supplement_1, page i130-i131 ; ISSN 1522-8517 1523-5866 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2022 |
| الوصف: | BACKGROUND: Individuals with rhabdoid tumor predisposition syndrome (RTPS1 – SMARCB1, RTPS2 – SMARCA4) have a propensity to develop malignant rhabdoid tumors (MRT). Affected patients typically present < age 12 months with synchronous tumors (SYN) exhibiting an unusually aggressive clinical behavior. Due to the rarity of RTPS, standards for management are evolving. METHODS: Clinical, genetic, and treatment data of 90 patients with RTPS from 16 countries were analyzed (2004 – 2020). Therapy followed the EU-RHAB recommendations. Tumors and matching blood samples were investigated for SMARCB1 and/or SMARCA4 mutations using FISH, MLPA and sequencing. DNA-methylation subgroups were determined using DNA methylation arrays. RESULTS: The median age at diagnosis of 52 girls and 38 boys was 5.5 months (0 – 203). 55.5% (50/90) of patients presented with an atypical teratoid/rhabdoid tumor (ATRT), 23.5% (21/90) demonstrated SYN, and 21% (19/90) extracranial MRT. RTPS1 was present in 84-, RTPS2 in six patients. In 77% (65/84) complete data on SMARCB1 mutational status were generated. Methylation subgroup status was available in 59% (40/68) of ATRT or SYN. The 5-year overall- (OS) and event free survival rates of patients with RTPS1 were 19.8 ± 4.8% and 15 ± 4.2%, respectively. Age < 1 year at diagnosis (10.1±4.3% vs. 46.7±11.1%), presence of SYN (5.3±5.1% vs. 24.8±6%), histological diagnosis (ATRT vs. eMRT/RTK/SYN) (26.8±7.1% vs. 11.9±5.6%), localized disease (34.5±8 vs. 8.3±4.6%), and presence of PGV at C-terminal (33±8.6% vs. 9.4±5.3%) were significant prognostic factors for 5-year OS in univariate analysis. INTERPRETATION: In the largest cohort of patients with RTPS, predictors significant for positive outcome could be detected: age > 1 year, absence of SYN, histological diagnosis ATRT, localized disease and PGV located at C-terminal. In our research project, we aim to characterize the complete pheno- and genotype of patients with RTPS to develop a risk score including surveillance ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/neuonc/noac079.475 |
| الإتاحة: | https://doi.org/10.1093/neuonc/noac079.475Test https://academic.oup.com/neuro-oncology/article-pdf/24/Supplement_1/i130/43945554/noac079.475.pdfTest |
| حقوق: | https://creativecommons.org/licenses/by-nc/4.0Test/ |
| رقم الانضمام: | edsbas.3C701E2F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/neuonc/noac079.475 |
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