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

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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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Acknowledgements

The authors thank the patient and her family for participating in this research. We also thank Y. Matsushita for technical support with the molecular analysis and K. Fukuoka for insightful comments.

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Author notes

  1. Yoshiko Nakano and Kai Yamasaki contributed equally to this work.

Authors and Affiliations

  1. Division of Brain Tumor Translational Research, National Cancer Center Research Institute, 5-1-1, Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan

    Yoshiko Nakano, Kai Yamasaki, Mai Honda-Kitahara & Koichi Ichimura

  2. Department of Pediatric Hematology/Oncology, Osaka City General Hospital, Osaka, Japan

    Yoshiko Nakano, Kai Yamasaki & Junichi Hara

  3. Department of Pediatric Neurosurgery, Osaka City General Hospital, Osaka, Japan

    Hiroaki Sakamoto, Yasuhiro Matsusaka & Noritsugu Kunihiro

  4. Department of Pathology, Osaka City General Hospital, Osaka, Japan

    Hiroko Fukushima & Takeshi Inoue

  5. Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan

    Akihiko Yoshida

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  1. Yoshiko Nakano
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Correspondence to Yoshiko Nakano.

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Nakano, Y., Yamasaki, K., Sakamoto, H. et al. A long-term survivor of pediatric midline glioma with H3F3A K27M and BRAF V600E double mutations. Brain Tumor Pathol 36, 162–168 (2019). https://doi.org/10.1007/s10014-019-00347-w

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  • DOI: https://doi.org/10.1007/s10014-019-00347-w

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