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Titel: 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
VerfasserIn: 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.
Sprache: Englisch
Titel: Cancers
Bandnummer: 14
Heft: 9
Verlag/Plattform: MDPI
Erscheinungsjahr: 2022
Freie Schlagwörter: SMARCB1
atypical teratoid rhabdoid tumors
extracranial malignant rhabdoid tumor
RTPS1
RTPS2
germline mutation
EU-RHAB registry
DDC-Sachgruppe: 610 Medizin, Gesundheit
Dokumenttyp: Journalartikel / Zeitschriftenartikel
Abstract: 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.
DOI der Erstveröffentlichung: 10.3390/cancers14092185
Link zu diesem Datensatz: urn:nbn:de:bsz:291--ds-361423
hdl:20.500.11880/32950
http://dx.doi.org/10.22028/D291-36142
ISSN: 2072-6694
Datum des Eintrags: 30-Mai-2022
Bezeichnung des in Beziehung stehenden Objekts: Supplementary Materials
In Beziehung stehendes Objekt: https://www.mdpi.com/article/10.3390/cancers14092185/s1
Fakultät: M - Medizinische Fakultät
Fachrichtung: M - Pädiatrie
M - Radiologie
Professur: M - Keiner Professur zugeordnet
Sammlung:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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