Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Nemes, K; Bens, S; Kachanov, D; Teleshova, M; Hauser, P; Simon, T; Tippelt, S; Woessmann, W; Beck, O; Flotho, C; Grigull, L; Driever, PH; Schlegel, PG; Khurana, C; Hering, K; Kolb, R; Leipold, A; Abbink, F; Gil-Da-Costa, MJ; Benesch, M; Kerl, K; Lowis, S; Marques, CH; Graf, N; Nysom, K; Vokuhl, C; Melchior, P; Kröncke, T; Schneppenheim, R; Kordes, U; Gerss, J; Siebert, R; Furtwängler, R; Frühwald, MC.
Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK).
Eur J Cancer. 2020; 142: 112-122.
Doi: 10.1016/j.ejca.2020.10.004
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Benesch Martin
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- Abstract:
- Extracranial rhabdoid tumours are rare, highly aggressive malignancies primarily affecting young children. The EU-RHAB registry was initiated in 2009 to prospectively collect data of rhabdoid tumour patients treated according to the EU-RHAB therapeutic framework. We evaluated 100 patients recruited within EU-RHAB (2009-2018). Tumours and matching blood samples were examined for SMARCB1 mutations by sequencing and cytogenetics. A total of 70 patients presented with extracranial, extrarenal tumours (eMRT) and 30 with renal rhabdoid tumours (RTK). Nine patients demonstrated synchronous tumours. Distant metastases at diagnosis (M+) were present in 35% (35/100), localised disease (M0) with (LN+) and without (LN-) loco-regional lymph node involvement in 65% (65/100). SMARCB1 germline mutations (GLM) were detected in 21% (17/81 evaluable) of patients. The 5-year overall survival (OS) and event-free survival (EFS) rates were 45.8 ± 5.4% and 35.2 ± 5.1%, respectively. On univariate analyses, age at diagnosis (≥12 months), M0-stage, absence of synchronous tumours, absence of a GLM, gross total resection (GTR), radiotherapy and achieving a CR were significantly associated with favourable outcomes. In an adjusted multivariate model presence of a GLM, M+ and lack of a GTR were the strongest significant negative predictors of outcome. We suggest to stratify patients with localised disease (M0), GTR+ and without proof of a GLM (5-year OS 72.2 ± 9.9%) as 'standard risk'. Patients presenting with one of the features M+ and/or GTR- and/or GLM+ belong to a high risk group (5-year, OS 32.5 ± 6.2%). These patients need novel therapeutic strategies such as combinations of targeted agents with conventional chemotherapy or novel experimental approaches ideally within international phase I/II trials. Copyright © 2020 Elsevier Ltd. All rights reserved.
- Find related publications in this database (Keywords)
- eMRT
- RTK
- EU-RHAB Registry
- SMARCB1
- Risk stratification