ATRT-05. Infants and newborns with atypical teratoid/rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors: a unique and challenging population
| العنوان: | ATRT-05. Infants and newborns with atypical teratoid/rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors: a unique and challenging population |
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| المؤلفون: | Nemes, Karolina, Johann, Pascal D, Steinbügl, Mona, Gruhle, Miriam, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita, Peter, Hauser, Simon, Thorsten, Tippelt, Stephan, Eberl, Wolfgang, Chada, Martin, Lopez, Vicente Santa-Maria, Grigull, Lorenz, Hernáiz-Driever, Pablo, Eyrich, Matthias, Pears, Jane, Milde, Till, Reinhard, Harald, Leipold, Alfred, de Wetering, Marianne v, João Gil-da-Costa, Maria, Ebetsberger-Dachs, Georg, Kerl, Kornelius, Lemmer, Andreas, Boztug, Heidrun, Furtwängler, Rhoikos, Kordes, Uwe, Siebert, Reiner, Vokuhl, Christian, Hasselblatt, Martin, Bison, Brigitte, Kröncke, Thomas, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, Frühwald, Michael C |
| المصدر: | Neuro-Oncology. 24:i2-i3 |
| بيانات النشر: | Oxford University Press (OUP), 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Cancer Research, Oncology, Medizin, Neurology (clinical) |
| الوصف: | INTRODUCTION: Malignant rhabdoid tumors (MRT) predominantly affect infants. Patients below six months represent a particularly challenging group: intensity of therapy is limited by toxicity to developing organs. Information on prognostic factors, toxicity and long term outcome is sparse. METHODS: Clinical, genetic, and treatment data of 100 patients (less than 6 months at diagnosis) from 13 European countries were analyzed (2005-2020). Tumors and matching blood samples were examined for SMARCB1 mutations using FISH, MLPA and Sanger sequencing. DNA-methylation subgroups (ATRT-TYR, ATRT-SHH, and ATRT-MYC) were determined using DNA methylation arrays. RESULTS: A total of 45 patients presented with ATRT, 29 with extracranial, extrarenal (eMRT) and 9 with renal rhabdoid tumors (RTK). Seventeen patients demonstrated synchronous tumors (SYN). Distant metastases at diagnosis (M+) were present in 27% (26/97). A germline mutation (GLM) was detected in 55% (47/86). Methylation subgroup status was available in 50% (31/62) of ATRT or SYN (SHH=13, TYR=13, MYC=4, SHH+TYR=1). The 5-year overall- (OS) and event free survival (EFS) rates were 23.5±4.6% and 19±4.1%, respectively. Male sex (11±5% vs. 35.8±7.4%), M+ (6.1±5.4% vs. 36.2±7.4%), presence of SYN (7.1±6.9% vs. 26.6±5.3%) and -GLM (7.7±4.2% vs. 45.7±8.6%) were significant prognosticators of 5-year OS, in univariate analysis. Molecular subgroup and survival analyses confirmed the previously described survival advantage of ATRT-TYR. In an adjusted multivariate model clinical factors that influence prognosis were: male sex [HR: 2.1 (1.2 – 3.6)], M+ [3.3 (1.8 – 6)], GLM [HR: 2 (1.1 – 3.6)] and maintenance therapy [HR: 0.3 (0.1 – 0.8)]. CONCLUSION: In this large cohort of homogenously treated infants with MRT, significant predictors of outcome were sex, M+, GLM and maintenance therapy. We confirm the need to stratify which patient group benefits from multimodal treatment, and which patients need novel therapeutic strategies. Biomarker-driven tailored trials may be a key option. |
| تدمد: | 1523-5866 1522-8517 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef446d59262d6e9cd833cdf52aa1e1f https://doi.org/10.1093/neuonc/noac079.004 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....8ef446d59262d6e9cd833cdf52aa1e1f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15235866 15228517 |
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