Nemes, Karolina, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita ORCID: 0000-0003-4042-0125, Hauser, Peter, Simon, Thorsten ORCID: 0000-0002-3425-8451, Tippelt, Stephan, Woessmann, Wilhelm, Beck, Olaf, Flotho, Christian, Grigull, Lorenz, Driever, Pablo H., Schlegel, Paul-Gerhardt, Khurana, Claudia, Hering, Kathrin, Kolb, Reinhard, Leipold, Alfred, Abbink, Floor, Gil-Da-Costa, Maria J., Benesch, Martin, Kerl, Kornelius, Lowis, Stephen, Marques, Carmen H., Graf, Norbert ORCID: 0000-0002-2248-323X, Nysom, Karsten, Vokuhl, Christian, Melchior, Patrick, Kroencke, Thomas, Schneppenheim, Reinhard, Kordes, Uwe, Gerss, Joachim, Siebert, Reiner, Furtwaengler, Rhoikos and Fruehwald, Michael C. (2021). Clinical and genetic risk factors define two risk groups of extracranial malignant rhabdoid tumours (eMRT/RTK). Eur. J. Cancer, 142. S. 112 - 123. OXFORD: ELSEVIER SCI LTD. ISSN 1879-0852

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Abstract

Introduction: 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. Methods: We evaluated 100 patients recruited within EU-RHAB (2009-2018). Tumours and matching blood samples were examined for SMARCB1 mutations by sequencing and cytogenetics. Results: 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. Conclusions: 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. (C) 2020 Elsevier Ltd. All rights reserved.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Nemes, KarolinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bens, SusanneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kachanov, DenisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Teleshova, MargaritaUNSPECIFIEDorcid.org/0000-0003-4042-0125UNSPECIFIED
Hauser, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simon, ThorstenUNSPECIFIEDorcid.org/0000-0002-3425-8451UNSPECIFIED
Tippelt, StephanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Woessmann, WilhelmUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beck, OlafUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flotho, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grigull, LorenzUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Driever, Pablo H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schlegel, Paul-GerhardtUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khurana, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hering, KathrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kolb, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Leipold, AlfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Abbink, FloorUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gil-Da-Costa, Maria J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benesch, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kerl, KorneliusUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lowis, StephenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marques, Carmen H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Graf, NorbertUNSPECIFIEDorcid.org/0000-0002-2248-323XUNSPECIFIED
Nysom, KarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vokuhl, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Melchior, PatrickUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kroencke, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schneppenheim, ReinhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kordes, UweUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerss, JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Siebert, ReinerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Furtwaengler, RhoikosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fruehwald, Michael C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-607110
DOI: 10.1016/j.ejca.2020.10.004
Journal or Publication Title: Eur. J. Cancer
Volume: 142
Page Range: S. 112 - 123
Date: 2021
Publisher: ELSEVIER SCI LTD
Place of Publication: OXFORD
ISSN: 1879-0852
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
THERAPY; SMARCB1; ABSENCEMultiple languages
OncologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60711

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