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Open Access 01-05-2019 | Glioma | Clinical Study

Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas

Authors: Karisa C. Schreck, Surabhi Ranjan, Nebojša Skorupan, Chetan Bettegowda, Charles G. Eberhart, Heather M. Ames, Matthias Holdhoff

Published in: Journal of Neuro-Oncology | Issue 1/2019

Abstract

Purpose

H3 K27 mutations, most commonly in H3F3A, are common in diffuse midline glioma. The exact frequency of these mutations in adults with gliomas in the midline location is unknown. This study was conducted to define the incidence of H3 K27M mutations in this location and to compare clinicopathological features with those of patients who do not harbor this mutation.

Methods

Consecutive glioma cases from 2007 to 2017 were screened for gliomas in the midline location. Immunohistochemistry was performed on all available tissue for mutations of H3 K27M, IDH1, and ARTX.

Results

Of 850 gliomas screened, 163 cases had midline glioma on MRI. Sufficient FFPE tissue was available for 123 cases (75%). H3 K27M mutation was identified in 18 of 123 cases (15%). All except one H3 K27M-mutant tumors were WHO grade III or IV on histology, while non-mutant tumors encompassed all four grades. The most common midline locations for H3 K27M-mutated tumors were midbrain (2/3; 67%), pons (4/11; 36%), and cerebellum (6/24; 25%). As compared to H3 K27M-wildtype tumors, there were no differences in age at diagnosis, sex, tumor grade, contrast enhancement on MRI, extent of resection, or treatment received. In this cohort, median survival was longer for patients with H3 K27M-mutated tumors (n = 18; 17.6 months) compared with high-grade wildtype tumors (n = 74; 7.7 months, p = 0.03).

Conclusions

H3 K27M mutations are common in midline gliomas in adults and can present in all midline locations. Survival comparison between H3 K27M-mutant and wildtype midline gliomas suggests that survival may be similar or possibly improved if the mutation is present.

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Title: Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas
Authors: Karisa C. Schreck
Surabhi Ranjan
Nebojša Skorupan
Chetan Bettegowda
Charles G. Eberhart
Heather M. Ames
Matthias Holdhoff
Publication date: 01-05-2019
Publisher: Springer US
Keywords: Glioma
Glioma
Glioma
Published in: Journal of Neuro-Oncology / Issue 1/2019
Print ISSN: 0167-594X
Electronic ISSN: 1573-7373
DOI: https://doi.org/10.1007/s11060-019-03134-x

At a glance: The STEP trials

Springer Medicine

Incidence and clinicopathologic features of H3 K27M mutations in adults with radiographically-determined midline gliomas

Abstract

Purpose

Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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