U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Diffuse midline glioma, H3 K27M-mutant

MedGen UID:
927220
•Concept ID:
C4289688
•
Neoplastic Process
Synonyms: Diffuse Midline Glioma, H3 K27M-Mutant; diffuse midline glioma, H3 K27M-mutant; Diffuse midline glioma, point mutation K27M in histone H3
SNOMED CT: Diffuse midline glioma, point mutation K27M in histone H3 (733862004); Diffuse midline glioma, H3 K27M-mutant (733862004)
 
Monarch Initiative: MONDO:0957196

Definition

A diffuse midline glioma characterized by the presence of histone H3 K27M mutation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Diffuse midline glioma, H3 K27M-mutant

Professional guidelines

PubMed

H3 K27M-altered glioma and diffuse intrinsic pontine glioma: Semi-systematic review of treatment landscape and future directions.
van den Bent M, Saratsis AM, Geurts M, Franceschi E
Neuro Oncol 2024 May 3;26(Supplement_2):S110-S124. doi: 10.1093/neuonc/noad220. PMID: 38102230Free PMC Article
Optimal therapeutic targeting by HDAC inhibition in biopsy-derived treatment-naïve diffuse midline glioma models.
Vitanza NA, Biery MC, Myers C, Ferguson E, Zheng Y, Girard EJ, Przystal JM, Park G, Noll A, Pakiam F, Winter CA, Morris SM, Sarthy J, Cole BL, Leary SES, Crane C, Lieberman NAP, Mueller S, Nazarian J, Gottardo R, Brusniak MY, Mhyre AJ, Olson JM
Neuro Oncol 2021 Mar 25;23(3):376-386. doi: 10.1093/neuonc/noaa249. PMID: 33130903Free PMC Article

Recent clinical studies

Etiology

Diffuse Midline Gliomas With Histone H3 K27M Mutation in Adults and Children: A Retrospective Series of 164 Cases.
Zheng L, Gong J, Yu T, Zou Y, Zhang M, Nie L, Chen X, Yue Q, Liu Y, Mao Q, Zhou Q, Chen N
Am J Surg Pathol 2022 Jun 1;46(6):863-871. Epub 2022 Apr 13 doi: 10.1097/PAS.0000000000001897. PMID: 35416795Free PMC Article
Diffuse midline gliomas, H3 K27M-mutant are associated with less peritumoral edema and contrast enhancement in comparison to glioblastomas, H3 K27M-wildtype of midline structures.
Banan R, Akbarian A, Samii M, Samii A, Bertalanffy H, Lehmann U, Hartmann C, Brüning R
PLoS One 2021;16(8):e0249647. Epub 2021 Aug 4 doi: 10.1371/journal.pone.0249647. PMID: 34347774Free PMC Article
Diffuse midline glioma metastasis to the peritoneal cavity via ventriculo-peritoneal shunt: Case report and review of literature.
Stephens S, Tollesson G, Robertson T, Campbell R
J Clin Neurosci 2019 Sep;67:288-293. Epub 2019 Jun 29 doi: 10.1016/j.jocn.2019.06.043. PMID: 31266714
Characterization of gliomas: from morphology to molecules.
Ferris SP, Hofmann JW, Solomon DA, Perry A
Virchows Arch 2017 Aug;471(2):257-269. Epub 2017 Jul 4 doi: 10.1007/s00428-017-2181-4. PMID: 28674742
Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.
Castel D, Philippe C, Calmon R, Le Dret L, Truffaux N, Boddaert N, Pagès M, Taylor KR, Saulnier P, Lacroix L, Mackay A, Jones C, Sainte-Rose C, Blauwblomme T, Andreiuolo F, Puget S, Grill J, Varlet P, Debily MA
Acta Neuropathol 2015 Dec;130(6):815-27. Epub 2015 Sep 23 doi: 10.1007/s00401-015-1478-0. PMID: 26399631Free PMC Article

Diagnosis

Extraneural Metastases of Diffuse Midline Glioma, H3 K27M-Mutant at Diagnosis: Case Report, Review of the Literature, and Identifying Targetable Alterations.
Lazow MA, Leach JL, Trout AT, Breneman JC, Fouladi M, Fuller C
J Pediatr Hematol Oncol 2022 Mar 1;44(2):e597-e604. doi: 10.1097/MPH.0000000000002189. PMID: 33974582
Neoplastic Myelopathies.
Pruitt AA
Continuum (Minneap Minn) 2021 Feb 1;27(1):121-142. doi: 10.1212/CON.0000000000000964. PMID: 33522739
Diffuse midline glioma H3 K27M-mutant in adults: A report of six cases and literature review.
Alzoubi H, Maraqa B, Hasasna N, Giangaspero F, Antonelli M, Gianno F, Arcella A, Al-Hussaini M
Clin Neuropathol 2021 Mar-Apr;40(2):108-117. doi: 10.5414/NP301331. PMID: 33191898
Characterization of gliomas: from morphology to molecules.
Ferris SP, Hofmann JW, Solomon DA, Perry A
Virchows Arch 2017 Aug;471(2):257-269. Epub 2017 Jul 4 doi: 10.1007/s00428-017-2181-4. PMID: 28674742
The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.
Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW
Acta Neuropathol 2016 Jun;131(6):803-20. Epub 2016 May 9 doi: 10.1007/s00401-016-1545-1. PMID: 27157931

Therapy

Diffuse midline glioma: review of epigenetics.
Cooney TM, Lubanszky E, Prasad R, Hawkins C, Mueller S
J Neurooncol 2020 Oct;150(1):27-34. Epub 2020 Aug 17 doi: 10.1007/s11060-020-03553-1. PMID: 32804378
Diffuse midline glioma metastasis to the peritoneal cavity via ventriculo-peritoneal shunt: Case report and review of literature.
Stephens S, Tollesson G, Robertson T, Campbell R
J Clin Neurosci 2019 Sep;67:288-293. Epub 2019 Jun 29 doi: 10.1016/j.jocn.2019.06.043. PMID: 31266714

Prognosis

Spinal Cord Diffuse Midline Gliomas With H3 K27m-Mutant: Clinicopathological Features and Prognosis.
Wang YZ, Zhang YW, Liu WH, Chai RC, Cao R, Wang B, An SY, Jiang WJ, Xu YL, Yang J, Jia WQ
Neurosurgery 2021 Jul 15;89(2):300-307. doi: 10.1093/neuros/nyab174. PMID: 34015818
Neoplastic Myelopathies.
Pruitt AA
Continuum (Minneap Minn) 2021 Feb 1;27(1):121-142. doi: 10.1212/CON.0000000000000964. PMID: 33522739
Diffuse midline glioma H3 K27M-mutant in adults: A report of six cases and literature review.
Alzoubi H, Maraqa B, Hasasna N, Giangaspero F, Antonelli M, Gianno F, Arcella A, Al-Hussaini M
Clin Neuropathol 2021 Mar-Apr;40(2):108-117. doi: 10.5414/NP301331. PMID: 33191898
Genomic and Phenotypic Characterization of a Broad Panel of Patient-Derived Xenografts Reflects the Diversity of Glioblastoma.
Vaubel RA, Tian S, Remonde D, Schroeder MA, Mladek AC, Kitange GJ, Caron A, Kollmeyer TM, Grove R, Peng S, Carlson BL, Ma DJ, Sarkar G, Evers L, Decker PA, Yan H, Dhruv HD, Berens ME, Wang Q, Marin BM, Klee EW, Califano A, LaChance DH, Eckel-Passow JE, Verhaak RG, Sulman EP, Burns TC, Meyer FB, O'Neill BP, Tran NL, Giannini C, Jenkins RB, Parney IF, Sarkaria JN
Clin Cancer Res 2020 Mar 1;26(5):1094-1104. Epub 2019 Dec 18 doi: 10.1158/1078-0432.CCR-19-0909. PMID: 31852831Free PMC Article
Characterization of gliomas: from morphology to molecules.
Ferris SP, Hofmann JW, Solomon DA, Perry A
Virchows Arch 2017 Aug;471(2):257-269. Epub 2017 Jul 4 doi: 10.1007/s00428-017-2181-4. PMID: 28674742

Clinical prediction guides

Spinal Cord Diffuse Midline Gliomas With H3 K27m-Mutant: Clinicopathological Features and Prognosis.
Wang YZ, Zhang YW, Liu WH, Chai RC, Cao R, Wang B, An SY, Jiang WJ, Xu YL, Yang J, Jia WQ
Neurosurgery 2021 Jul 15;89(2):300-307. doi: 10.1093/neuros/nyab174. PMID: 34015818
Tectal Low-Grade Glioma with H3 K27M Mutation.
Sumi K, Shijo K, Igarashi T, Yamamuro S, Sasano M, Oshima H, Ishige T, Honma T, Yagasaki H, Yoshino A
World Neurosurg 2020 Sep;141:91-100. Epub 2020 Jun 4 doi: 10.1016/j.wneu.2020.05.240. PMID: 32505657
Diffuse high-grade gliomas with H3 K27M mutations carry a dismal prognosis independent of tumor location.
Karremann M, Gielen GH, Hoffmann M, Wiese M, Colditz N, Warmuth-Metz M, Bison B, Claviez A, van Vuurden DG, von Bueren AO, Gessi M, Kühnle I, Hans VH, Benesch M, Sturm D, Kortmann RD, Waha A, Pietsch T, Kramm CM
Neuro Oncol 2018 Jan 10;20(1):123-131. doi: 10.1093/neuonc/nox149. PMID: 29016894Free PMC Article
Characterization of gliomas: from morphology to molecules.
Ferris SP, Hofmann JW, Solomon DA, Perry A
Virchows Arch 2017 Aug;471(2):257-269. Epub 2017 Jul 4 doi: 10.1007/s00428-017-2181-4. PMID: 28674742
Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.
Castel D, Philippe C, Calmon R, Le Dret L, Truffaux N, Boddaert N, Pagès M, Taylor KR, Saulnier P, Lacroix L, Mackay A, Jones C, Sainte-Rose C, Blauwblomme T, Andreiuolo F, Puget S, Grill J, Varlet P, Debily MA
Acta Neuropathol 2015 Dec;130(6):815-27. Epub 2015 Sep 23 doi: 10.1007/s00401-015-1478-0. PMID: 26399631Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...