A new amplicon-based gene panel for next generation sequencing characterization of meningiomas

Autor:	Christian Mawrin, Ralf Koch, Natalie Waldt, I. Erol Sandalcioglu, Werner E. K. Braunsdorf, Jan‐Peter Warnke, Felix Goehre, Hans‐Jürgen Meisel, Christian Ewald, Sina Neyazi, Ulrich Schüller, Elmar Kirches
Rok vydání:	2021
Předmět:	DNA-Binding Proteins Brain Neoplasms Chromosomal Proteins Non-Histone General Neuroscience Homozygote Mutation Meningeal Neoplasms High-Throughput Nucleotide Sequencing Humans Neurology (clinical) Meningioma Pathology and Forensic Medicine
Zdroj:	Brain pathology (Zurich, Switzerland). 32(2)
ISSN:	1750-3639
Popis:	Meningiomas are the most frequent primary intracranial tumors. The considerable variety of histological subtypes has been expanded by the definition of molecular alterations, which can improve both diagnostic accuracy and determination of individual patient's outcome. According to the upcoming WHO classification of brain tumors, the in-time analysis of frequent molecular events in meningiomas may become mandatory to define meningioma subtypes. We have compiled a custom-made amplicon-based next generation sequencing (NGS) meningioma panel covering the most frequent known recurrent mutations in 15 different genes. In an unselected consecutive meningioma cohort (109 patients) analyzed over a period of 12 months, we detected mutations in 11 different genes, with most frequent alterations in NF2 (43%), AKT1
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8705d114a40654e48408c93730959d47 https://pubmed.ncbi.nlm.nih.gov/35754180 Zobrazit plný text záznamu Plný text