Can I read DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study on EtoBox?
DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study by Jessica C Pickles; Amy R Fairchild; Thomas J Stone; Lorelle Brownlee; Ashirwad Merve; Shireena A Yasin; Aimee Avery; Saira W Ahmed; Olumide Ogunbiyi; Jamie Gonzalez Zapata; Abigail F Peary; Marie Edwards; Lisa Wilkhu; Carryl Dryden; Dariusz Ladon; Mark Kristiansen; Catherine Rowe; Kathreena M Kurian; James A R Nicoll; Clare Mitchell; Tabitha Bloom; David A Hilton; Safa Al-Sarraj; Lawrence Doey; Paul N Johns; Leslie R Bridges; Aruna Chakrabarty; Azzam Ismail; Nitika Rathi; Khaja Syed; G Alistair Lammie; Clara Limback-Stanic; Colin Smith; Antonia Torgersen; Frances Rae; Rebecca M Hill; Steven C Clifford; Yura Grabovska; Daniel Williamson; Matthew Clarke; Chris Jones; David Capper; Martin Sill; Andreas von Deimling; Stefan M Pfister; David T W Jones; Darren Hargrave; Jane Chalker; Thomas S Jacques is a Medicine article available to read on EtoBox.
What is DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study about?
## Background: 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. ## Methods: 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. ## Findings: Of 484 patients younger than 20 years with cns
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- Author
- Jessica C Pickles; Amy R Fairchild; Thomas J Stone; Lorelle Brownlee; Ashirwad Merve; Shireena A Yasin; Aimee Avery; Saira W Ahmed; Olumide Ogunbiyi; Jamie Gonzalez Zapata; Abigail F Peary; Marie Edwards; Lisa Wilkhu; Carryl Dryden; Dariusz Ladon; Mark Kristiansen; Catherine Rowe; Kathreena M Kurian; James A R Nicoll; Clare Mitchell; Tabitha Bloom; David A Hilton; Safa Al-Sarraj; Lawrence Doey; Paul N Johns; Leslie R Bridges; Aruna Chakrabarty; Azzam Ismail; Nitika Rathi; Khaja Syed; G Alistair Lammie; Clara Limback-Stanic; Colin Smith; Antonia Torgersen; Frances Rae; Rebecca M Hill; Steven C Clifford; Yura Grabovska; Daniel Williamson; Matthew Clarke; Chris Jones; David Capper; Martin Sill; Andreas von Deimling; Stefan M Pfister; David T W Jones; Darren Hargrave; Jane Chalker; Thomas S Jacques
- Publisher
- Elsevier BV
- Published
- 2019
- Language
- EN
- Field
- Medicine (Health Sciences)