TY  - JOUR
AU  - Ecker, Jonas
AU  - Selt, Florian
AU  - Sturm, Dominik
AU  - Sill, Martin
AU  - Korshunov, Andrey
AU  - Hirsch, Steffen
AU  - Capper, David
AU  - Dikow, Nicola
AU  - Sutter, Christian
AU  - Müller, Carina
AU  - Sigaud, Romain
AU  - Eggert, Angelika
AU  - Simon, Thorsten
AU  - Niehues, Tim
AU  - von Deimling, Andreas
AU  - Pajtler, Kristian W
AU  - van Tilburg, Cornelis M
AU  - Jones, David T W
AU  - Sahm, Felix
AU  - Pfister, Stefan M
AU  - Witt, Olaf
AU  - Milde, Till
TI  - Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry.
JO  - European journal of cancer
VL  - 180
SN  - 0014-2964
CY  - Amsterdam [u.a.]
PB  - Elsevier
M1  - DKFZ-2022-03157
SP  - 71 - 84
PY  - 2023
N1  - #EA:B310#LA:B310#
AB  - 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.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.Integrated molecular diagnostics resulted in refined or changed diagnosis in 117/263 (44
KW  - Brain tumour (Other)
KW  - Cancer predisposition (Other)
KW  - Constitutional DNA variant (Other)
KW  - Molecular diagnostics (Other)
KW  - Molecular targeted therapy (Other)
KW  - Paediatric oncology (Other)
KW  - Precision oncology (Other)
KW  - Sarcoma (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:36542877
DO  - DOI:10.1016/j.ejca.2022.11.015
UR  - https://inrepo02.dkfz.de/record/186390
ER  -