{"doi":"10.1111/bpa.13046","title":"A new amplicon‐based gene panel for next generation sequencing characterization of meningiomas","abstract":"<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>NF2</jats:italic> (43%), <jats:italic>AKT1</jats:italic><jats:sup>E17K</jats:sup> (15%), and <jats:italic>TRAF7</jats:italic> (13%). In 39 tumors (36%), two different mutations were detected, with <jats:italic>NF2</jats:italic> and <jats:italic>SUFU</jats:italic> (<jats:italic>n</jats:italic> = 5) and <jats:italic>KLF4</jats:italic> and <jats:italic>TRAF7</jats:italic> (<jats:italic>n</jats:italic> = 5) being the most frequent combinations. No alterations were found in <jats:italic>POLR2A, CDKN2A, CDKN2B, and BAP1</jats:italic>, and no homozygous <jats:italic>CDKN2A/B</jats:italic> deletion was detected. <jats:italic>NF2</jats:italic> mutations were found in tumors of all WHO grades, whereas mutations in <jats:italic>KLF4, TRAF7, and SMO</jats:italic> were restricted to WHO grade I meningiomas. In contrast, <jats:italic>SMARCE1 and TERT</jats:italic> mutations were associated with WHO grade II meningiomas (according to the WHO classification 2016). The distribution of mutations across histological subtypes or tumor localization was in line with the existing literature, with typical combinations like <jats:italic>KLF4</jats:italic>K<jats:sup>409Q</jats:sup>/<jats:italic>TRAF7</jats:italic> for secretory meningiomas and preferential skull base localization of meningiomas harboring <jats:italic>SMO and AKT1</jats:italic><jats:sup>E17K</jats:sup> mutations. Thus, we present a custom‐made NGS meningioma panel providing a time and cost‐efficient reliable detection of relevant somatic molecular alterations in meningiomas suitable for daily routine.</jats:p>","journal":"Brain Pathology","year":2022,"id":593203,"datarank":1.0436743364390664,"base_score":2.833213344056216,"endowment":2.833213344056216,"self_citation_contribution":0.42498200160843247,"citation_network_contribution":0.6186923348306339,"self_endowment_contribution":0.42498200160843247,"citer_contribution":0.6186923348306339,"corpus_percentile":null,"corpus_rank":null,"citation_count":16,"citer_count":11,"citers_with_citation_signal":5,"citers_with_endowment":5,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1518245,"name":"Ralf Koch","orcid":null,"position":1,"is_corresponding":false},{"id":1518247,"name":"Natalie Waldt","orcid":null,"position":2,"is_corresponding":false},{"id":1518248,"name":"I. Erol Sandalcioglu","orcid":null,"position":3,"is_corresponding":false},{"id":1518249,"name":"Werner E. K. Braunsdorf","orcid":null,"position":4,"is_corresponding":false},{"id":1518250,"name":"Jan‐Peter Warnke","orcid":null,"position":5,"is_corresponding":false},{"id":1518251,"name":"Felix Goehre","orcid":null,"position":6,"is_corresponding":false},{"id":1518252,"name":"Hans‐Jürgen Meisel","orcid":null,"position":7,"is_corresponding":false},{"id":1518253,"name":"Christian Ewald","orcid":null,"position":8,"is_corresponding":false},{"id":1361989,"name":"Sina Neyazi","orcid":"0000-0002-9861-2325","position":9,"is_corresponding":false},{"id":236593,"name":"Ulrich Schüller","orcid":"0000-0002-8731-1121","position":10,"is_corresponding":false},{"id":1518255,"name":"Elmar Kirches","orcid":null,"position":11,"is_corresponding":false},{"id":839061,"name":"Christian Mawrin","orcid":"0000-0002-6677-3124","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A new amplicon‐based gene panel for next generation sequencing characterization of meningiomas","abstract":"<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>NF2</jats:italic> (43%), <jats:italic>AKT1</jats:italic><jats:sup>E17K</jats:sup> (15%), and <jats:italic>TRAF7</jats:italic> (13%). In 39 tumors (36%), two different mutations were detected, with <jats:italic>NF2</jats:italic> and <jats:italic>SUFU</jats:italic> (<jats:italic>n</jats:italic> = 5) and <jats:italic>KLF4</jats:italic> and <jats:italic>TRAF7</jats:italic> (<jats:italic>n</jats:italic> = 5) being the most frequent combinations. No alterations were found in <jats:italic>POLR2A, CDKN2A, CDKN2B, and BAP1</jats:italic>, and no homozygous <jats:italic>CDKN2A/B</jats:italic> deletion was detected. <jats:italic>NF2</jats:italic> mutations were found in tumors of all WHO grades, whereas mutations in <jats:italic>KLF4, TRAF7, and SMO</jats:italic> were restricted to WHO grade I meningiomas. In contrast, <jats:italic>SMARCE1 and TERT</jats:italic> mutations were associated with WHO grade II meningiomas (according to the WHO classification 2016). The distribution of mutations across histological subtypes or tumor localization was in line with the existing literature, with typical combinations like <jats:italic>KLF4</jats:italic>K<jats:sup>409Q</jats:sup>/<jats:italic>TRAF7</jats:italic> for secretory meningiomas and preferential skull base localization of meningiomas harboring <jats:italic>SMO and AKT1</jats:italic><jats:sup>E17K</jats:sup> mutations. Thus, we present a custom‐made NGS meningioma panel providing a time and cost‐efficient reliable detection of relevant somatic molecular alterations in meningiomas suitable for daily routine.</jats:p>","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35213080","pmcid":"PMC8877726","openalex_id":null,"authors":[],"funders":[],"total_grants":0,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"gold","license":"cc-by-nc-nd","oa_locations":[{"url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/bpa.13046","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/bpa.13046","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1111/bpa.13046","host_type":"publisher"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8877726","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC8877726","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC8877726?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":[],"mesh_terms":["Humans","Meningioma","Brain Neoplasms","Meningeal Neoplasms","DNA-Binding Proteins","Chromosomal Proteins, Non-Histone","Homozygote","Mutation","High-Throughput Nucleotide Sequencing"],"keywords":["Meningioma","Next Generation Sequencing","Amplicon-based Targeted Sequencing"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-26T17:47:31.234045Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}