Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord

Tomohiro Okuda; Nobuhiro Hata; Satoshi O Suzuki; Koji Yoshimoto; Koichi Arimura; Takeo Amemiya; Yojiro Akagi; Daisuke Kuga; Utako Oba; Yuhki Koga; Shouichi Ohga; Toru Iwaki; Koji Iihara

doi:10.1111/neup.12471

Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord

Neuropathology. 2018 Apr 19. doi: 10.1111/neup.12471. Online ahead of print.

Authors

Affiliations

¹ Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
² Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
³ Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

PMID: 29675936
DOI: 10.1111/neup.12471

Abstract

The 2016 edition of the World Health Organization Classification of Tumors of the Central Nervous System introduced "diffuse midline glioma H3 K27M mutant" as a new diagnostic entity. These tumors predominately affect pediatric patients and arise from midline structures such as the brainstem, thalamus and spinal cord. Here, we report a rare patient with spinal ganglioglioma carrying an H3 K27M mutation. A 10-year-old boy presented with an intramedullary tumor in the cervical spinal cord. The lesion was partially removed and histologically diagnosed as ganglioglioma. After the remnant tumor grew within 3 months after surgery, the patient underwent radiotherapy. Genetic analyses revealed an H3F3A K27M mutation but no other genetic alterations such as IDH and BRAF mutations. This case may point to pathological heterogeneity in gliomas with H3 K27M mutations.

Keywords: BRAF V600E; H3F3A; IDH, K27M; diffuse intrinsic pontine glioma.

Publication types

Case Reports