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

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    Author
    Schreck, K.C.
    Ranjan, S.
    Skorupan, N.
    Date
    2019
    Journal
    Journal of Neuro-Oncology
    Publisher
    Springer New York LLC
    Type
    Article
    
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    See at
    https://dx.doi.org/10.1007/s11060-019-03134-x
    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. Copyright 2019, The Author(s).
    Keyword
    Diffuse midline glioma
    Glioma
    H3 K27M
    IDH1
    Identifier to cite or link to this item
    https://www.scopus.com/inward/record.uri?eid=2-s2.0-85062957568&doi=10.1007%2fs11060-019-03134-x&partnerID=40&md5=3e04374ae0f030db9d0d79406970eb06; http://hdl.handle.net/10713/8621
    ae974a485f413a2113503eed53cd6c53
    10.1007/s11060-019-03134-x
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