Academic Journal
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
| العنوان: | 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 |
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| المؤلفون: | Nemes, Karolina, Johann, Pascal D., Steinbügl, Mona, Gruhle, Miriam, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita, Hauser, Peter, 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, van de Wetering, Marianne, Gil-da-Costa, Maria João, Ebetsberger-Dachs, Georg, Kerl, Kornelius, Lemmer, Andreas, Boztug, Heidrun, Furtwängler, Rhoikos, Kordes, Uwe, Vokuhl, Christian, Hasselblatt, Martin, Bison, Brigitte, Kröncke, Thomas, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, Siebert, Reiner, Frühwald, Michael C. |
| سنة النشر: | 2022 |
| المجموعة: | OPUS FAU - Online publication system of Friedrich-Alexander-Universität Erlangen-Nürnberg |
| مصطلحات موضوعية: | ddc:610 |
| الوصف: | Simple Summary Malignant rhabdoid tumors (MRT) are deadly tumors that predominantly affect infants and young children. Even when considering the generally young age of these patients, the treatment of infants below the age of six months represents a particular challenge due to the vulnerability of this patient population. The aim of our retrospective study was to assess the available information on prognostic factors, genetics, toxicity of treatment and long-term outcomes of MRT. We confirmed that, in a cohort of homogenously treated infants with MRT, significant predictors of outcome were female sex, localized stage, absence of a GLM and maintenance therapy, and these significantly favorably influence prognosis. Stratification-based biomarker-driven tailored trials may be a key option to improve survival rates. Abstract 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 ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/19198; urn:nbn:de:bvb:29-opus4-191984; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-191984; https://doi.org/10.3390/cancers14092185; https://opus4.kobv.de/opus4-fau/files/19198/cancers-14-02185-v3.pdf |
| DOI: | 10.3390/cancers14092185 |
| الاتاحة: | https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/19198 https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-191984 https://doi.org/10.3390/cancers14092185 https://opus4.kobv.de/opus4-fau/files/19198/cancers-14-02185-v3.pdf |
| Rights: | https://creativecommons.org/licenses/by/4.0/deed.de ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.AFA6D6CA |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/cancers14092185 |
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