TBIO-17. IMPLEMENTATION OF METHYLATION PROFILING FOR CNS TUMOR DIAGNOSIS IN THE PRINCESS MÁXIMA CENTER FOR PEDIATRIC ONCOLOGY, THE NETHERLANDS. Issue 2 (22nd June 2018)

• Record Type: Journal Article
• Authors: Wesseling, Pieter; Priesterbach-Ackley, Loudy; Plasschaert, Sabine; Hoving, Eelco; Küsters, Benno; Schoots, Mirthe; Aronica, Eleonora; Tops, Bas; de Leng, Wendy
• Is Part Of: Neuro-oncology. Volume 20:Issue 2(2018)supplement 2
• Page Start: i183
• Page End: i184
• Publication Date: 2018-06-22
• Subjects: Brain Neoplasms -- Periodicals; Brain -- Tumors -- Periodicals; Brain -- Cancer -- Periodicals; Nervous system -- Cancer -- Periodicals; 616.99481
• DOI: 10.1093/neuonc/noy059.705
• Languages: English
• ISSNs: 1522-8517

Abstract

Abstract: BACKGROUND: Since the fall of 2016, in the Netherlands diagnosis and treatment of children with CNS tumors is increasingly concentrated in the Princess Máxima Center (PMC), i.e. the newly established, national center for pediatric oncology. Because of its potential as a support tool for CNS tumor diagnosis, Infinium MethylationEPIC BeadChip analysis was readily implemented and 'routinely' performed on pediatric CNS tumor samples in the PMC. AIM: To identify the challenges and opportunities of methylation profiling as a support tool for the diagnosis of pediatric CNS tumors. PATIENTS AND METHODS: We have now analyzed >150 pediatric (formalin-fixed/paraffin-embedded) CNS tumor samples using methylation profiling and matched the profiles with the 'Heidelberg database' (https://www.molecularneuropathology.org/mnp ). RESULTS: In > 90% of analyzed cases, the suggested methylation class corresponded very well with the pathological (histological +/- molecular) diagnosis. In some other cases, the suggested methylation class was not very helpful because the reliability score of the test was (too) low, or because the suggested class not adequately reflected the actual presence of a tumor (e.g. 'reactive/inflammatory changes') or was not (yet) as precise as desired (e.g. 'diffuse glioma/glioblastoma, IDH-wildtype, midline type (but not H3-mutant)'). However, in many other cases the tool was very helpful for reaching a more precise diagnosis (esp. so for medulloblastomas, ependymomas) or directed towards the right diagnosis. CONCLUSIONS: Methylation profiling is a very powerful tool to confirm, fine-tune and/or direct pediatric CNS tumor diagnostics. However, it is crucial to interpret this new level of information in the clinical, radiological and pathological context.