دورية أكاديمية
Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered?
| العنوان: | Diffuse hemispheric glioma with H3 p.K28M (K27M) mutation: Unusual non-midline presentation of diffuse midline glioma, H3 K27M-altered? |
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| المؤلفون: | Donev K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Scottsdale, Arizona, USA., Sundararajan V; OhioHealth Riverside Methodist Hospital, Columbus, Ohio, USA.; CORPath Pathology Services, Columbus, Ohio, USA., Johnson D; Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA., Balan J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Chambers M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Paulson VA; Department of Laboratory Medicine and Pathology, Genetics and Solid Tumor Laboratory, University of Washington, Seattle, Washington, USA., Scherpelz KP; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Abdullaev Z; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA., Quezado M; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA., Cimino PJ; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA., Pratt D; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA., Valerio E; Department of Pathology, A.C. Camargo Cancer Center, Sao Paulo, Brazil., Alves de Castro JV; Department of Pathology, A.C. Camargo Cancer Center, Sao Paulo, Brazil., Carraro DM; Genomics and Molecular Biology Group, International Center of Research CIPE, A.C. Camargo Cancer Center, Sao Paulo, Brazil.; National Institute of Science and Technology in Oncogenomics (INCITO), Sao Paulo, Brazil., Torrezan GT; Genomics and Molecular Biology Group, International Center of Research CIPE, A.C. Camargo Cancer Center, Sao Paulo, Brazil.; National Institute of Science and Technology in Oncogenomics (INCITO), Sao Paulo, Brazil., Wolff BM; Cytogenomic Laboratory, Department of Pathology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Kulikowski LD; Cytogenomic Laboratory, Department of Pathology, Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, Brazil., Costa FD; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.; Dasa Laboratories, Sao Paulo, Brazil., Aldape K; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA., Ida CM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA. |
| المصدر: | Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2024 Apr 19; Vol. 83 (5), pp. 357-364. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 2985192R Publication Model: Print Cited Medium: Internet ISSN: 1554-6578 (Electronic) Linking ISSN: 00223069 NLM ISO Abbreviation: J Neuropathol Exp Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2016- : Oxford, England : Oxford University Press Original Publication: Lawrence, Ks : Association of the journal of neuropathology and experimental neurology |
| مواضيع طبية MeSH: | Brain Neoplasms*/diagnostic imaging , Brain Neoplasms*/genetics , Brain Neoplasms*/pathology , Glioma*/genetics , Glioma*/pathology, Humans ; Child ; Histones/genetics ; Mutation/genetics ; Epigenomics |
| مستخلص: | 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. (© The Author(s) 2024. Published by Oxford University Press on behalf of American Association of Neuropathologists, Inc.) |
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| فهرسة مساهمة: | Keywords: H3-3A; H3F3A; Brain tumor; Diffuse glioma; Genomics; Histone H3; Methylation profile |
| المشرفين على المادة: | 0 (Histones) |
| تواريخ الأحداث: | Date Created: 20240306 Date Completed: 20240422 Latest Revision: 20240422 |
| رمز التحديث: | 20240422 |
| مُعرف محوري في PubMed: | PMC11029465 |
| DOI: | 10.1093/jnen/nlae018 |
| PMID: | 38447592 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1554-6578 |
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| DOI: | 10.1093/jnen/nlae018 |