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| 001 | 186390 | ||
| 005 | 20240229145745.0 | ||
| 024 | 7 | _ | |a 10.1016/j.ejca.2022.11.015 |2 doi |
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| 100 | 1 | _ | |a Ecker, Jonas |0 P:(DE-He78)3de637452ba900e2bdd359b8f41953bf |b 0 |e First author |u dkfz |
| 245 | _ | _ | |a Molecular diagnostics enables detection of actionable targets: the Pediatric Targeted Therapy 2.0 registry. |
| 260 | _ | _ | |a Amsterdam [u.a.] |c 2023 |b Elsevier |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1677138311_6896 |2 PUB:(DE-HGF) |
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| 520 | _ | _ | |a 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%) 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.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. |
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| 650 | _ | 7 | |a Brain tumour |2 Other |
| 650 | _ | 7 | |a Cancer predisposition |2 Other |
| 650 | _ | 7 | |a Constitutional DNA variant |2 Other |
| 650 | _ | 7 | |a Molecular diagnostics |2 Other |
| 650 | _ | 7 | |a Molecular targeted therapy |2 Other |
| 650 | _ | 7 | |a Paediatric oncology |2 Other |
| 650 | _ | 7 | |a Precision oncology |2 Other |
| 650 | _ | 7 | |a Sarcoma |2 Other |
| 700 | 1 | _ | |a Selt, Florian |0 P:(DE-He78)a23e88cc676489fe05be8c178ceaf58e |b 1 |u dkfz |
| 700 | 1 | _ | |a Sturm, Dominik |0 P:(DE-He78)a46a5b2a871859c8e2d63d2f8c666807 |b 2 |u dkfz |
| 700 | 1 | _ | |a Sill, Martin |0 P:(DE-He78)45440b44791309bd4b7dbb4f73333f9b |b 3 |u dkfz |
| 700 | 1 | _ | |a Korshunov, Andrey |0 P:(DE-He78)8d9c904a6cea14d4c99c78ba46e41f93 |b 4 |u dkfz |
| 700 | 1 | _ | |a Hirsch, Steffen |0 P:(DE-He78)5e3d4de4b59cd068969e101847794267 |b 5 |u dkfz |
| 700 | 1 | _ | |a Capper, David |0 P:(DE-He78)51bf9ae9cb5771b30c483e5597ef606c |b 6 |u dkfz |
| 700 | 1 | _ | |a Dikow, Nicola |b 7 |
| 700 | 1 | _ | |a Sutter, Christian |b 8 |
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| 700 | 1 | _ | |a Eggert, Angelika |b 11 |
| 700 | 1 | _ | |a Simon, Thorsten |b 12 |
| 700 | 1 | _ | |a Niehues, Tim |b 13 |
| 700 | 1 | _ | |a von Deimling, Andreas |0 P:(DE-He78)a8a10626a848d31e70cfd96a133cc144 |b 14 |u dkfz |
| 700 | 1 | _ | |a Pajtler, Kristian W |0 P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d |b 15 |u dkfz |
| 700 | 1 | _ | |a van Tilburg, Cornelis M |0 P:(DE-He78)a6b5fcabf661bef95109dbee87dc5271 |b 16 |u dkfz |
| 700 | 1 | _ | |a Jones, David T W |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 17 |u dkfz |
| 700 | 1 | _ | |a Sahm, Felix |0 P:(DE-He78)a1f4b408b9155beb2a8f7cba4d04fe88 |b 18 |u dkfz |
| 700 | 1 | _ | |a Pfister, Stefan M |0 P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9 |b 19 |u dkfz |
| 700 | 1 | _ | |a Witt, Olaf |0 P:(DE-He78)143af26de9d57bf624771616318aaf7c |b 20 |u dkfz |
| 700 | 1 | _ | |a Milde, Till |0 P:(DE-He78)0be2f86573954f87e97f8a4dbb05cb0f |b 21 |e Last author |u dkfz |
| 773 | _ | _ | |a 10.1016/j.ejca.2022.11.015 |g Vol. 180, p. 71 - 84 |0 PERI:(DE-600)1468190-0 |p 71 - 84 |t European journal of cancer |v 180 |y 2023 |x 0014-2964 |
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