TY  - JOUR
AU  - Pickles, Jessica C
AU  - Fairchild, Amy R
AU  - Stone, Thomas J
AU  - Brownlee, Lorelle
AU  - Merve, Ashirwad
AU  - Yasin, Shireena A
AU  - Avery, Aimee
AU  - Ahmed, Saira W
AU  - Ogunbiyi, Olumide
AU  - Gonzalez Zapata, Jamie
AU  - Peary, Abigail F
AU  - Edwards, Marie
AU  - Wilkhu, Lisa
AU  - Dryden, Carryl
AU  - Ladon, Dariusz
AU  - Kristiansen, Mark
AU  - Rowe, Catherine
AU  - Kurian, Kathreena M
AU  - Nicoll, James A R
AU  - Mitchell, Clare
AU  - Bloom, Tabitha
AU  - Hilton, David A
AU  - Al-Sarraj, Safa
AU  - Doey, Lawrence
AU  - Johns, Paul N
AU  - Bridges, Leslie R
AU  - Chakrabarty, Aruna
AU  - Ismail, Azzam
AU  - Rathi, Nitika
AU  - Syed, Khaja
AU  - Lammie, G Alistair
AU  - Limback-Stanic, Clara
AU  - Smith, Colin
AU  - Torgersen, Antonia
AU  - Rae, Frances
AU  - Hill, Rebecca M
AU  - Clifford, Steven C
AU  - Grabovska, Yura
AU  - Williamson, Daniel
AU  - Clarke, Matthew
AU  - Jones, Chris
AU  - Capper, David
AU  - Sill, Martin
AU  - von Deimling, Andreas
AU  - Pfister, Stefan M
AU  - Jones, David T W
AU  - Hargrave, Darren
AU  - Chalker, Jane
AU  - Jacques, Thomas S
TI  - DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study.
JO  - The lancet child & adolescent health
VL  - 4
IS  - 2
SN  - 2352-4642
CY  - Kidlington, Oxford
PB  - Elsevier
M1  - DKFZ-2019-02869
SP  - 121-130
PY  - 2020
N1  - 2020 Feb;4(2):121-130
AB  - Marked variation exists in the use of genomic data in tumour diagnosis, and optimal integration with conventional diagnostic technology remains uncertain despite several studies reporting improved diagnostic accuracy, selection for targeted treatments, and stratification for trials. Our aim was to assess the added value of molecular profiling in routine clinical practice and the impact on conventional and experimental treatments.This population-based study assessed the diagnostic and clinical use of DNA methylation-based profiling in childhood CNS tumours using two large national cohorts in the UK. In the diagnostic cohort-which included routinely diagnosed CNS tumours between Sept 1, 2016, and Sept 1, 2018-we assessed how the methylation profile altered or refined diagnosis in routine clinical practice and estimated how this would affect standard patient management. For the archival cohort of diagnostically difficult cases, we established how many cases could be solved using modern standard pathology, how many could only be solved using the methylation profile, and how many remained unsolvable.Of 484 patients younger than 20 years with CNS tumours, 306 had DNA methylation arrays requested by the neuropathologist and were included in the diagnostic cohort. Molecular profiling added a unique contribution to clinical diagnosis in 107 (35
LB  - PUB:(DE-HGF)16
C6  - pmid:31786093
DO  - DOI:10.1016/S2352-4642(19)30342-6
UR  - https://inrepo02.dkfz.de/record/148311
ER  -