{"doi":"10.1093/jnen/nlae018","title":"Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?","abstract":"<jats:title>Abstract</jats:title>\n               <jats:p>Diffuse midline glioma, H3 K27-altered (DMG-H3 K27) is an aggressive group of diffuse gliomas that predominantly occurs in pediatric patients, involves midline structures, and displays loss of H3 p.K28me3 (K27me3) expression by immunohistochemistry and characteristic genetic/epigenetic profile. Rare examples of a diffuse glioma with an H3 p.K28M (K27M) mutation and without involvement of the midline structures, so-called “diffuse hemispheric glioma with H3 p.K28M (K27M) mutation” (DHG-H3 K27), have been reported. Herein, we describe 2 additional cases of radiologically confirmed DHG-H3 K27 and summarize previously reported cases. We performed histological, immunohistochemical, molecular, and DNA methylation analysis and provided clinical follow-up in both cases. Overall, DHG-H3 K27 is an unusual group of diffuse gliomas that shows similar clinical, histopathological, genomic, and epigenetic features to DMG-H3 K27 as well as enrichment for activating alterations in MAPK pathway genes. These findings suggest that DHG-H3 K27 is closely related to DMG-H3 K27 and may represent an unusual presentation of DMG-H3 K27 without apparent midline involvement and with frequent MAPK pathway activation. Detailed reports of additional cases with clinical follow-up will be important to expand our understanding of this unusual group of diffuse gliomas and to better define the clinical outcome and how to classify DHG-H3 K27.</jats:p>","journal":"Journal of Neuropathology &amp; Experimental Neurology","year":2024,"id":620604,"datarank":0.38474240361923057,"base_score":2.5649493574615367,"endowment":2.5649493574615367,"self_citation_contribution":0.38474240361923057,"citation_network_contribution":0.0,"self_endowment_contribution":0.38474240361923057,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":12,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"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":1602113,"name":"Vanitha Sundararajan","orcid":null,"position":1,"is_corresponding":false},{"id":1602115,"name":"Derek Johnson","orcid":null,"position":2,"is_corresponding":false},{"id":1448496,"name":"Jagadheshwar Balan","orcid":"0000-0002-8291-4054","position":3,"is_corresponding":false},{"id":1236701,"name":"Meagan Chambers","orcid":"0000-0002-8741-0509","position":4,"is_corresponding":false},{"id":1602119,"name":"Vera A Paulson","orcid":null,"position":5,"is_corresponding":false},{"id":1602120,"name":"Kathryn P Scherpelz","orcid":null,"position":6,"is_corresponding":false},{"id":240507,"name":"Zied Abdullaev","orcid":"0000-0001-6345-2088","position":7,"is_corresponding":false},{"id":234328,"name":"Martha Quezado","orcid":null,"position":8,"is_corresponding":false},{"id":1602122,"name":"Patrick J Cimino","orcid":null,"position":9,"is_corresponding":false},{"id":238039,"name":"Drew Pratt","orcid":"0000-0003-3583-8308","position":10,"is_corresponding":false},{"id":1602123,"name":"Ediel Valerio","orcid":null,"position":11,"is_corresponding":false},{"id":1602124,"name":"João Vıctor Alves de Castro","orcid":null,"position":12,"is_corresponding":false},{"id":180282,"name":"Dirce Maria Carraro","orcid":null,"position":13,"is_corresponding":false},{"id":1409206,"name":"Giovana Tardin Torrezan","orcid":"0000-0002-8659-5329","position":14,"is_corresponding":false},{"id":1602125,"name":"Beatriz Martins Wolff","orcid":null,"position":15,"is_corresponding":false},{"id":1275969,"name":"Leslie Domenici Kulikowski","orcid":"0000-0003-2236-3956","position":16,"is_corresponding":false},{"id":942089,"name":"Felipe D’Almeida Costa","orcid":"0000-0002-6470-749X","position":17,"is_corresponding":false},{"id":13200,"name":"Kenneth Aldape","orcid":"0000-0001-5119-7550","position":18,"is_corresponding":false},{"id":692889,"name":"Cristiane M. Ida","orcid":"0000-0003-2768-2913","position":19,"is_corresponding":false},{"id":899853,"name":"Kliment Donev","orcid":"0009-0000-4221-0936","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?","abstract":"<jats:title>Abstract</jats:title>\n               <jats:p>Diffuse midline glioma, H3 K27-altered (DMG-H3 K27) is an aggressive group of diffuse gliomas that predominantly occurs in pediatric patients, involves midline structures, and displays loss of H3 p.K28me3 (K27me3) expression by immunohistochemistry and characteristic genetic/epigenetic profile. Rare examples of a diffuse glioma with an H3 p.K28M (K27M) mutation and without involvement of the midline structures, so-called “diffuse hemispheric glioma with H3 p.K28M (K27M) mutation” (DHG-H3 K27), have been reported. Herein, we describe 2 additional cases of radiologically confirmed DHG-H3 K27 and summarize previously reported cases. We performed histological, immunohistochemical, molecular, and DNA methylation analysis and provided clinical follow-up in both cases. Overall, DHG-H3 K27 is an unusual group of diffuse gliomas that shows similar clinical, histopathological, genomic, and epigenetic features to DMG-H3 K27 as well as enrichment for activating alterations in MAPK pathway genes. These findings suggest that DHG-H3 K27 is closely related to DMG-H3 K27 and may represent an unusual presentation of DMG-H3 K27 without apparent midline involvement and with frequent MAPK pathway activation. Detailed reports of additional cases with clinical follow-up will be important to expand our understanding of this unusual group of diffuse gliomas and to better define the clinical outcome and how to classify DHG-H3 K27.</jats:p>","is_dataset_classified":null,"base_score":2.5649493574615367,"endowment":2.5649493574615367,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"38447592","pmcid":"PMC11029465","openalex_id":"https://openalex.org/W4392565132","authors":[],"funders":[],"total_grants":0,"fwci":3.4016,"citation_percentile":0.92732828,"influential_citations":0,"citation_trend":[{"year":2024,"count":7},{"year":2025,"count":3},{"year":2026,"count":2}],"oa_status":"hybrid","license":"cc-by-nc","oa_locations":[{"url":"https://academic.oup.com/jnen/advance-article-pdf/doi/10.1093/jnen/nlae018/56880059/nlae018.pdf","host_type":"journal"},{"url":"https://academic.oup.com/jnen/advance-article-pdf/doi/10.1093/jnen/nlae018/56880059/nlae018.pdf","host_type":"publisher"},{"url":"https://academic.oup.com/jnen/article-pdf/83/5/357/57273515/nlae018.pdf","host_type":"publisher"},{"url":"https://doi.org/10.1093/jnen/nlae018","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/38447592","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11029465","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11029465/pdf/nlae018.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC11029465","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC11029465?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Glioma Diagnosis and Treatment","Radiomics and Machine Learning in Medical Imaging","MRI in cancer diagnosis","Humans","Child","Brain Neoplasms","Histones","Glioma","Mutation","Epigenomics"],"mesh_terms":["Brain Neoplasms","Child","Glioma","Histones","Humans","Mutation","Epigenomics"],"keywords":["Glioma","Presentation (obstetrics)","Medicine","Radiology","Cancer research","Genomics","Brain tumor","Diffuse Glioma","Histone H3","Methylation Profile","H3f3a","H3-3a"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-03T11:32:43.108238Z","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":[]}