Diffuse midline glioma H3 K27M-mutant in adults: A report of six cases and literature review

Alzoubi, Hiba; Maraqa, Bayan; Hasasna, Nabil; Giangaspero, Felice; Antonelli, Manila; Gianno, Francesca; Arcella, Antonella; Al‐Hussaini, Maysa

doi:10.5414/np301331

Cited by 10 publications

(8 citation statements)

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“…Furthermore, the rate of 38% of patients with diffuse midline glioma harboring H3F3A K27M mutation in our cohort is below the reported frequency of 50–80% [ 23 ]. However, these published data refer predominantly to pediatric cohorts, whereas currently no epidemiological data are available regarding the proportion of DMG patients in mixed pediatric/adult cohorts [ 48 ]. While the reported median age of patients with DMG is 5–11 years [ 12 ], the median age of the patients presented here is 27 years.…”

Section: Discussionmentioning

confidence: 99%

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

Akbarian²,

Samii

et al. 2021

PLoS ONE

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Purpose The entity ‘diffuse midline glioma, H3 K27M-mutant (DMG)’ was introduced in the revised 4th edition of the 2016 WHO classification of brain tumors. However, there are only a few reports on magnetic resonance imaging (MRI) of these tumors. Thus, we conducted a retrospective survey focused on MRI features of DMG compared to midline glioblastomas H3 K27M-wildtype (mGBM-H3wt). Methods We identified 24 DMG cases and 19 mGBM-H3wt patients as controls. After being retrospectively evaluated for microscopic evidence of microvascular proliferations (MVP) and tumor necrosis by two experienced neuropathologists to identify the defining histological criteria of mGBM-H3wt, the samples were further analyzed by two experienced readers regarding imaging features such as shape, peritumoral edema and contrast enhancement. Results The DMG were found in the thalamus in 37.5% of cases (controls 63%), in the brainstem in 50% (vs. 32%) and spinal cord in 12.5% (vs. 5%). In MRI and considering MVP, DMG were found to be by far less likely to develop peritumoral edema (OR: 0.13; 95%-CL: 0.02–0.62) (p = 0.010). They, similarly, were associated with a significantly lower probability of developing strong contrast enhancement compared to mGBM-H3wt (OR: 0.10; 95%-CL: 0.02–0.47) (P = 0.003). Conclusion Despite having highly variable imaging features, DMG exhibited markedly less edema and lower contrast enhancement in MRI compared to mGBM-H3wt. Of these features, the enhancement level was associated with evidence of MVP.

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Section: Discussionmentioning

confidence: 99%

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

Akbarian²,

Samii

et al. 2021

PLoS ONE

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“…Diffuse midline gliomas are mostly high-grade tumors and have a lethal outcome. These neoplasms can occur at any age from infants to elderly patients but are most commonly found in children (35,45,46). About 80-90% of these tumors harbor mutations in H3 genes, most of which are H3K27M genotypes (45).…”

Section: Discussionmentioning

confidence: 99%

Prognostic Implication of Patient Age in H3K27M-Mutant Midline Gliomas

Vuong

Ngo

et al. 2022

Front. Oncol.

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IntroductionPediatric and adult H3K27M-mutant midline gliomas have variable clinical presentations, prognoses, and molecular backgrounds. In this study, we integrated data from published studies to investigate the differences between these two groups.MethodsPubMed and Web of Science were searched for potential data. Studies were included if they had available individual participant data on patients age of H3K27M-mutant midline gliomas. For time-to-event analyses, Kaplan-Meier analysis and Cox regression models were carried out; corresponding hazard ratios (HR) and 95% confidence intervals (CI) were computed to analyze the impact of age and clinical covariates on progression-free survival (PFS) and overall survival (OS).ResultsWe included 43 studies comprising 272 adults and 657 pediatric midline gliomas with H3K27M mutation for analyses. In adults, there was a male predilection whereas females were slightly more common than males in the pediatric group. Spinal cord tumors were more frequent in adults. The prevalence of H3.1 K27M mutation was significantly higher in the pediatric cohort. Compared to adult patients, pediatric H3K27M-mutant midline gliomas exhibited more aggressive features including higher rates of pathologic features of high-grade tumors and Ki67 proliferation index, and had a shorter PFS and OS. Genetically, ACVR1 mutations were more common whereas MGMT methylation, FGFR1, and NF1 mutations were less prevalent in the pediatric cohort.ConclusionPediatric H3K27M-mutant midline gliomas were demographically, clinically, and molecularly distinct from adult patients, highlighting an opportunity to refine the risk stratification for these neoplasms.

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“…16,48 In contrast to other brainstem gliomas, DMG H3 K27-altered typically present with an acute course of months and in both adults and children, with an average duration of symptoms of 2 to 3 months (►Table 4). 24,40…”

Section: Clinical Presentation Clinical Features Of Cranial Dmg H3 K2...mentioning

confidence: 99%

H3 K27M-Altered Diffuse Midline Gliomas: A Review

Wiśniewski

Ghaly

Drummond

et al. 2023

Indian Journal of Neurosurgery

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Diffuse midline glioma H3 K27M-altered is a recently renamed high-grade glioma in the 2021 World Health Organization (WHO) Classification of Central Nervous System Tumors, previously being labelled diffuse midline glioma H3 K27M-mutant in the 2016 update and diffuse intrinsic pontine glioma prior to 2016. After identification of multiple alterations causing H3 K27 hypomethylation, the definition of this tumor subtype was changed. To further characterize this new entity in both the pediatric and adult population, we conducted a review of the current literature, investigating genetic, epidemiological, clinical, radiological, histopathological, treatment and prognostic characteristics, particularly highlighting the differences between adults and children. This tumor is more common in children, and has a poorer prognosis. Additionally, childhood H3 K27-altered gliomas are more common in the brainstem, but more common in the thalamus in adults. Sadly, limited treatment options exist for these tumors, with radiotherapy the only treatment shown to improve overall survival.

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Diffuse midline glioma H3 K27M-mutant in adults: A report of six cases and literature review

Cited by 10 publications

References 0 publications

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

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

Prognostic Implication of Patient Age in H3K27M-Mutant Midline Gliomas

H3 K27M-Altered Diffuse Midline Gliomas: A Review

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