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

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

来源：Neuropathology, 2018, 38(4): 422-427.

DOI：10.1111/neup.12471

• BRAF V600E
• diffuse intrinsic pontine glioma
• H3F3A
• IDH
• K27M

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 3months 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.

• 出版日期2018-8