{
  "abstract": "INTRODUCTION: In IDH-mutant gliomas, the accumulation of 2-hydroxyglutarate (2-HG) induces widespread epigenetic disruption and drives gliomagenesis. L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disorder causing L-2-HG accumulation, resulting in myelin toxicity, and increased brain tumor risk. Gliomas arising in L-2-HGA remain poorly characterized. We report a new case of high-grade glioma in a L-2-HGA patient, including methylome profiling, and review previously published cases to clarify glioma characteristics and provide hypothesis regarding 2-HG-driven gliomagenesis. MATERIAL AND METHODS: A new case of high-grade glioma in a L-2-HGA patient was locally identified. A literature review was conducted following PRISMA guidelines. RESULTS: A 45-year-old L-2-HGA woman developed a diffuse anaplastic glioma harboring a TERTp C228T mutation, revealed by progressive neurological decline. Methylation profiling assigned the tumor to the \"Diffuse pediatric-type high-grade gliomas\" superfamily (score ≥0.9). Despite chemotherapy, the patient died 5 months post-diagnosis. Literature review yielded 20 documented cases of glioma in L-2-HGA patients, with a mean age at diagnosis of 18 ± 9.5 years. Tumor location was relatively stereotyped, with 75% in the temporal lobe or thalamus/basal ganglia. Molecular alterations typical of glioblastoma were observed (EGFR amplification, partial 10q loss) and the epigenetic profile was similar. Although some tumors misleadingly harbored the microscopic features of low-grade gliomas, the median overall survival was 6 months. CONCLUSION: Although gliomas associated with L-2HGA predominantly affect young patients, their characteristics differ from those of IDH-mutant gliomas. These tumors may possibly be related to diffuse pediatric-type high-grade glioma H3-wildtype and IDH-wildtype, which is consistent with their highly aggressive clinical course.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "name": "Carmen Lutz"
    },
    {
      "name": "Marc Barritault"
    },
    {
      "name": "Alexandre Vasiljevic"
    },
    {
      "name": "Serkan Cakmak"
    },
    {
      "name": "Alexis Chambost"
    },
    {
      "name": "Alexandre Bani-Sadr"
    },
    {
      "name": "Clémentine Gallet"
    },
    {
      "name": "David Meyronet"
    },
    {
      "name": "Francois Ducray"
    },
    {
      "name": "Thiebaud Picart"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ahamk8ygsy47c.bib",
  "cited_by": 0,
  "doi": "10.1016/j.neuchi.2026.101869",
  "fulltext_url": null,
  "id": "ahamk8ygsy47c",
  "issns": [
    "0028-3770",
    "1773-0619"
  ],
  "landing_url": "https://hal.science/hal-05837537v1",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "hal",
      "1.sdv.imm"
    ],
    [
      "openalex",
      "2716|Glioma Diagnosis and Treatment"
    ]
  ],
  "openalex": "W7196953333",
  "pdf_url": "https://www.sciencedirect.com/science/article/pii/S0028377026001037/pdf",
  "pmcid": null,
  "pmid": "42562066",
  "published": "2026-10-23",
  "publisher": "Elsevier Masson",
  "ris": "https://research.draconitic.com/paper/ahamk8ygsy47c.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:01Z",
      "native_id": "hal-05837537",
      "source": "hal",
      "url": "https://hal.science/hal-05837537v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "hal:1.sdv.imm",
      "subfield": "immunology"
    }
  ],
  "title": "Characteristics of glioma in L-2-Hydroxyglutaric Aciduria: a case report and literature review",
  "title_text": "Characteristics of glioma in L-2-Hydroxyglutaric Aciduria: a case report and literature review",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:18:01Z",
  "url": "https://research.draconitic.com/paper/ahamk8ygsy47c",
  "venue": "Neurochirurgie",
  "versions": []
}