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

Yoshiko Nakano, Kai Yamasaki, Hiroaki Sakamoto, Yasuhiro Matsusaka, Noritsugu Kunihiro, Hiroko Fukushima, Takeshi Inoue, Mai Honda-Kitahara, Junichi Hara, Akihiko Yoshida, Koichi Ichimura
Brain Tumor Pathology 2019, 36 (4): 162-168
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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