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Brain Tumor Pathology
Published in: Brain Tumor Pathology 4/2019

01-10-2019 | Glioma | Case Report

A long-term survivor of pediatric midline glioma with H3F3A K27M and BRAF V600E double mutations

Authors: Yoshiko Nakano, Kai Yamasaki, Hiroaki Sakamoto, Yasuhiro Matsusaka, Noritsugu Kunihiro, Hiroko Fukushima, Takeshi Inoue, Mai Honda-Kitahara, Junichi Hara, Akihiko Yoshida, Koichi Ichimura

Published in: Brain Tumor Pathology | Issue 4/2019

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Abstract

We report a case of 2-year-old female with lateral ventricular glioma harboring both H3F3A K27M and BRAF V600E mutations. By the methylation analysis, the tumor was classified as a diffuse midline glioma H3 K27M mutant, WHO grade IV. However, the tumor was pathologically low-grade and likely localized rather than diffusely infiltrating. Further, the patient has survived more than 8 years after gross total resection of the tumor. Whereas both H3F3A K27M and BRAF V600E have been reported as poor prognostic markers in pediatric glioma, our case, along with several other reported cases, suggests that the coexistence of these two mutations might not indicate poor prognosis. The case emphasizes the importance of comprehensive assessment based on pathological, genetic and clinical findings and calls for further investigations of non-diffuse glioma with H3F3A K27M and glioma with H3F3A K27M and BRAF V600E.
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Metadata
Title
A long-term survivor of pediatric midline glioma with H3F3A K27M and BRAF V600E double mutations
Authors
Yoshiko Nakano
Kai Yamasaki
Hiroaki Sakamoto
Yasuhiro Matsusaka
Noritsugu Kunihiro
Hiroko Fukushima
Takeshi Inoue
Mai Honda-Kitahara
Junichi Hara
Akihiko Yoshida
Koichi Ichimura
Publication date
01-10-2019
Publisher
Springer Singapore
Published in
Brain Tumor Pathology / Issue 4/2019
Print ISSN: 1433-7398
Electronic ISSN: 1861-387X
DOI
https://doi.org/10.1007/s10014-019-00347-w

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