Infants and newborns with atypical teratoid rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors (eMRT) in the EU-RHAB Registry: a unique and challenging population
Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors, genetics, t...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2022
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| In: |
Cancers
Year: 2022, Jahrgang: 14, Heft: 9, Pages: 1-16 |
| ISSN: | 2072-6694 |
| DOI: | 10.3390/cancers14092185 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3390/cancers14092185 Verlag, lizenzpflichtig, Volltext: https://www.mdpi.com/2072-6694/14/9/2185 
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| Verfasserangaben: | Karolina Nemes, Pascal D. Johann, Mona Steinbügl, Miriam Gruhle, Susanne Bens, Denis Kachanov, Margarita Teleshova, Peter Hauser, Thorsten Simon, Stephan Tippelt, Wolfgang Eberl, Martin Chada, Vicente Santa-Maria Lopez, Lorenz Grigull, Pablo Hernáiz-Driever, Matthias Eyrich, Jane Pears, Till Milde, Harald Reinhard, Alfred Leipold, Marianne van de Wetering, Maria João Gil-da-Costa, Georg Ebetsberger-Dachs, Kornelius Kerl, Andreas Lemmer, Heidrun Boztug, Rhoikos Furtwängler, Uwe Kordes, Christian Vokuhl, Martin Hasselblatt, Brigitte Bison, Thomas Kröncke, Patrick Melchior, Beate Timmermann, Joachim Gerss, Reiner Siebert and Michael C. Frühwald |
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| 245 | 1 | 0 | |a Infants and newborns with atypical teratoid rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors (eMRT) in the EU-RHAB Registry |b a unique and challenging population |c Karolina Nemes, Pascal D. Johann, Mona Steinbügl, Miriam Gruhle, Susanne Bens, Denis Kachanov, Margarita Teleshova, Peter Hauser, Thorsten Simon, Stephan Tippelt, Wolfgang Eberl, Martin Chada, Vicente Santa-Maria Lopez, Lorenz Grigull, Pablo Hernáiz-Driever, Matthias Eyrich, Jane Pears, Till Milde, Harald Reinhard, Alfred Leipold, Marianne van de Wetering, Maria João Gil-da-Costa, Georg Ebetsberger-Dachs, Kornelius Kerl, Andreas Lemmer, Heidrun Boztug, Rhoikos Furtwängler, Uwe Kordes, Christian Vokuhl, Martin Hasselblatt, Brigitte Bison, Thomas Kröncke, Patrick Melchior, Beate Timmermann, Joachim Gerss, Reiner Siebert and Michael C. Frühwald |
| 264 | 1 | |c 2022 | |
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| 500 | |a Published: 27 April 2022 | ||
| 500 | |a Gesehen am 29.06.2022 | ||
| 520 | |a Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors, genetics, toxicity of treatment and long-term outcomes is sparse. Methods: Clinical, genetic, and treatment data of 100 patients (aged below 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 450 k / 850 k-profiling. 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). Metastases (M+) were present in 27% (26/97) at diagnosis. A germline mutation (GLM) was detected in 55% (47/86). DNA methylation subgrouping was available in 50% (31 / 62) with ATRT or SYN; for eMRT, methylation-based subgrouping was not performed. 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+ stage (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 prognostic factors for 5-year OS. Molecular subgrouping and survival analyses confirm a previously described survival advantage for ATRT-TYR. In an adjusted multivariate model, clinical factors that favorably influence the prognosis were female sex, localized stage, absence of a GLM and maintenance therapy. Conclusions: In this cohort of homogenously treated infants with MRT, significant predictors of outcome were sex, M-stage, GLM and maintenance therapy. We confirm the need to stratify which patient groups benefit from multimodal treatment, and which need novel therapeutic strategies. Biomarker-driven tailored trials may be a key option. | ||
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| 650 | 4 | |a atypical teratoid rhabdoid tumors | |
| 650 | 4 | |a EU-RHAB registry | |
| 650 | 4 | |a extracranial malignant rhabdoid tumor | |
| 650 | 4 | |a germline mutation | |
| 650 | 4 | |a RTPS1 | |
| 650 | 4 | |a RTPS2 | |
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| 700 | 1 | |a Gruhle, Miriam |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bens, Susanne |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kachanov, Denis |e VerfasserIn |4 aut | |
| 700 | 1 | |a Teleshova, Margarita |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hauser, Peter |e VerfasserIn |4 aut | |
| 700 | 1 | |a Simon, Thorsten |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tippelt, Stephan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Eberl, Wolfgang |e VerfasserIn |4 aut | |
| 700 | 1 | |a Chada, Martin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lopez, Vicente Santa-Maria |e VerfasserIn |4 aut | |
| 700 | 1 | |a Grigull, Lorenz |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hernáiz-Driever, Pablo |e VerfasserIn |4 aut | |
| 700 | 1 | |a Eyrich, Matthias |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pears, Jane |e VerfasserIn |4 aut | |
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| 700 | 1 | |a Reinhard, Harald |e VerfasserIn |4 aut | |
| 700 | 1 | |a Leipold, Alfred |e VerfasserIn |4 aut | |
| 700 | 1 | |a van de Wetering, Marianne |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gil-da-Costa, Maria João |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ebetsberger-Dachs, Georg |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kerl, Kornelius |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lemmer, Andreas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Boztug, Heidrun |e VerfasserIn |4 aut | |
| 700 | 1 | |a Furtwängler, Rhoikos |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kordes, Uwe |e VerfasserIn |4 aut | |
| 700 | 1 | |a Vokuhl, Christian |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hasselblatt, Martin |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bison, Brigitte |d 1964- |e VerfasserIn |0 (DE-588)120166445 |0 (DE-627)696438410 |0 (DE-576)292074913 |4 aut | |
| 700 | 1 | |a Kröncke, Thomas |e VerfasserIn |4 aut | |
| 700 | 1 | |a Melchior, Patrick |e VerfasserIn |4 aut | |
| 700 | 1 | |a Timmermann, Beate |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gerss, Joachim |e VerfasserIn |4 aut | |
| 700 | 1 | |a Siebert, Reiner |e VerfasserIn |4 aut | |
| 700 | 1 | |a Frühwald, Michael C. |e VerfasserIn |4 aut | |
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