Universität zu Köln

Ecker, Jonas, Selt, Florian, Sturm, Dominik ORCID: 0000-0003-0250-1696, Sill, Martin, Korshunov, Andrey, Hirsch, Steffen, Capper, David ORCID: 0000-0003-1945-497X, Dikow, Nicola, Sutter, Christian, Mueller, Carina, Sigaud, Romain, Eggert, Angelika ORCID: 0000-0003-3476-8184, Simon, Thorsten, Niehues, Tim, von Deimling, Andreas ORCID: 0000-0002-5863-540X, Pajtler, Kristian W., van Tilburg, Cornelis M., Jones, David T. W. ORCID: 0000-0002-2036-5141, Sahm, Felix, Pfister, Stefan M., Witt, Olaf and Milde, Till ORCID: 0000-0002-7267-1052 (2023). Original Research Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry. Eur. J. Cancer, 180. S. 71 - 85. OXFORD: ELSEVIER SCI LTD. ISSN 1879-0852

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Abstract

Background: Precision oncology requires diagnostic accuracy and robust detection of actionable alterations. The Pediatric Targeted Therapy (PTT) 2.0 program aims at improving diagnostic accuracy by addition of molecular analyses to the existing histological diagnosis and detection of actionable alterations for relapsed paediatric oncology patients, in cases with limited availability of tumour material.Methods: Paediatric patients diagnosed with relapse or progression of a central nervous system tumour (n = 178), a sarcoma (n = 41) or another solid tumour (n = 44) were included. DNA methylation array, targeted gene panel sequencing on tumour and blood (130 genes), RNA sequencing in selected cases and a pathway-specific immunohistochemistry (IHC) panel were performed using limited formalin-fixed paraffin embedded tissue from any disease episode available. The clinical impact of reported findings was assessed by a serial questionnaire-based follow-up.Results: Integrated molecular diagnostics resulted in refined or changed diagnosis in 117/263 (44%) tumours. Actionable targets were detected in 155/263 (59%) cases. Constitutional DNA variants with clinical relevance were identified in 16/240 (7%) of patients, half of which were previously unknown. Clinical follow-up showed that 26/263 (10%) of patients received mechanism-of-action based treatment matched to the molecular findings.Conclusion: Next-generation diagnostics adds robust and relevant information on diagnosis, actionable alterations and cancer predisposition syndromes even when tissue from the current disease episode is limited. 2022 Elsevier Ltd. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ecker, Jonas UNSPECIFIED UNSPECIFIED UNSPECIFIED Selt, Florian UNSPECIFIED UNSPECIFIED UNSPECIFIED Sturm, Dominik UNSPECIFIED orcid.org/0000-0003-0250-1696 UNSPECIFIED Sill, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Korshunov, Andrey UNSPECIFIED UNSPECIFIED UNSPECIFIED Hirsch, Steffen UNSPECIFIED UNSPECIFIED UNSPECIFIED Capper, David UNSPECIFIED orcid.org/0000-0003-1945-497X UNSPECIFIED Dikow, Nicola UNSPECIFIED UNSPECIFIED UNSPECIFIED Sutter, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Mueller, Carina UNSPECIFIED UNSPECIFIED UNSPECIFIED Sigaud, Romain UNSPECIFIED UNSPECIFIED UNSPECIFIED Eggert, Angelika UNSPECIFIED orcid.org/0000-0003-3476-8184 UNSPECIFIED Simon, Thorsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Niehues, Tim UNSPECIFIED UNSPECIFIED UNSPECIFIED von Deimling, Andreas UNSPECIFIED orcid.org/0000-0002-5863-540X UNSPECIFIED Pajtler, Kristian W. UNSPECIFIED UNSPECIFIED UNSPECIFIED van Tilburg, Cornelis M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Jones, David T. W. UNSPECIFIED orcid.org/0000-0002-2036-5141 UNSPECIFIED Sahm, Felix UNSPECIFIED UNSPECIFIED UNSPECIFIED Pfister, Stefan M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Witt, Olaf UNSPECIFIED UNSPECIFIED UNSPECIFIED Milde, Till UNSPECIFIED orcid.org/0000-0002-7267-1052 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-687073
DOI:	10.1016/j.ejca.2022.11.015
Journal or Publication Title:	Eur. J. Cancer
Volume:	180
Page Range:	S. 71 - 85
Date:	2023
Publisher:	ELSEVIER SCI LTD
Place of Publication:	OXFORD
ISSN:	1879-0852
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CENTRAL-NERVOUS-SYSTEM; CLASSIFICATION; MEDICINE Multiple languages Oncology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/68707