Publication details

Molekulární klasifikace meduloblastomů pomocí celogenomového expresního profilování

Title in English Molecular Classification of Medullobastomas by Whole Genome Expression Profiling
Authors

NOSKOVÁ Hana ADAMCOVÁ Soňa KNOFLÍČKOVÁ Dana RADOVÁ Lenka PAVELKA Zdeněk VEJMĚLKOVÁ Klára ZITTERBART Karel SLABÝ Ondřej ŠTĚRBA Jaroslav

Year of publication 2019
Type Article in Periodical
Magazine / Source Klinická onkologie
MU Faculty or unit

Faculty of Medicine

Citation
Web https://www.prolekare.cz/casopisy/klinicka-onkologie/2019-supplementum1/molekularni-klasifikace-meduloblastomu-pomoci-celogenomoveho-expresniho-profilovani-109561
Keywords gene expression profiling; precision medicine; pediatric oncology; medulloblastoma
Description Background: Medulloblastoma (MB) is the most common malignant tumour of the central nervous system in children. MB is considered to be high risk tumour propensity to metastasize. In the Czech Republic, approximately 10–12 children are affected annually by this tumour. Recent progress in molecular diagnostics helps to refine the diagnosis and estimate clinical prognosis of the disease. Currently, MBs are subclassified into WNT-activated, SHH-activated, group 3, and 4 based on molecular pathways that drive their tumorigenesis. Each subtype differs in its histopathology, clinical features, genomic changes and gene expressions. The aim of our study is to classify patient’s MBs into four basic molecular groups and compare our results with published data. Material and methods: In our study we analysed expression profiles using Affymetrix GeneChip Human Gene 1.0. ST Array (Thermo Fisher Scientific, MA, USA). As input material RNA extracted from the fresh frozen tissue was used. Molecular classification based on the method established by P. Northcott in 2011 was performed. Results: From April 2015 to February 2019, 21 patients with MBs were included in our study. Median age of the patients at the time of diagnosis was 6 years, 14 boys and 7 girls were enrolled. Gene expression profiling and molecular classification of MBs was performed. Based on this methodology, we found the most frequently represented subgroup of MB was group 4 (9 patients, 43%), followed by group 3 (5 patients, 24%), SHH-activated MB (4 patients, 19%) and the least represented subgroup was WNT-activated MB (3 patients, 14%). Results of molecular subgroup classification of MBs were successfully correlated with histopathological findings and other molecular-genetic examinations. Conclusion: Molecular classification of MBs has been established in our institution allowing better understanding of this heterogeneous disease and helping clinicians in therapeutic planning in affected patients.
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