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

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

Department of Neurosurgery

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

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.

Original language	English
Pages (from-to)	422-427
Number of pages	6
Journal	Neuropathology
Volume	38
Issue number	4
DOIs	https://doi.org/10.1111/neup.12471
Publication status	Published - 2018 Aug

Keywords

BRAF V600E
H3F3A
IDH, K27M
diffuse intrinsic pontine glioma

ASJC Scopus subject areas

Pathology and Forensic Medicine
Clinical Neurology

Access to Document

10.1111/neup.12471

Cite this

@article{b4e86867943e4ba6831b38b7bef4260d,

title = "Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord",

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",

author = "Tomohiro Okuda and Nobuhiro Hata and Suzuki, {Satoshi O.} and Koji Yoshimoto and Koichi Arimura and Takeo Amemiya and Yojiro Akagi and Daisuke Kuga and Utako Oba and Yuhki Koga and Shouichi Ohga and Toru Iwaki and Koji Iihara",

note = "Funding Information: We thank Ms. Fumie Doi for technical assistance. This work was supported by the Japanese Society for the Promotion of Science Grant-in-Aid for Scientific Research (KAKENHI) (Grant Nos. 16 K10779, 16 K20015, 17 K16652 and 17 K10868). Publisher Copyright: {\textcopyright} 2018 Japanese Society of Neuropathology",

year = "2018",

month = aug,

doi = "10.1111/neup.12471",

language = "English",

volume = "38",

pages = "422--427",

journal = "Neuropathology",

issn = "0919-6544",

publisher = "Wiley-Blackwell",

number = "4",

}

TY - JOUR

T1 - Pediatric ganglioglioma with an H3 K27M mutation arising from the cervical spinal cord

AU - Okuda, Tomohiro

AU - Hata, Nobuhiro

AU - Suzuki, Satoshi O.

AU - Yoshimoto, Koji

AU - Arimura, Koichi

AU - Amemiya, Takeo

AU - Akagi, Yojiro

AU - Kuga, Daisuke

AU - Oba, Utako

AU - Koga, Yuhki

AU - Ohga, Shouichi

AU - Iwaki, Toru

AU - Iihara, Koji

N1 - Funding Information: We thank Ms. Fumie Doi for technical assistance. This work was supported by the Japanese Society for the Promotion of Science Grant-in-Aid for Scientific Research (KAKENHI) (Grant Nos. 16 K10779, 16 K20015, 17 K16652 and 17 K10868). Publisher Copyright: © 2018 Japanese Society of Neuropathology

PY - 2018/8

Y1 - 2018/8

N2 - 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.

AB - 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.

KW - BRAF V600E

KW - H3F3A

KW - IDH, K27M

KW - diffuse intrinsic pontine glioma

UR - http://www.scopus.com/inward/record.url?scp=85050964170&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85050964170&partnerID=8YFLogxK

U2 - 10.1111/neup.12471

DO - 10.1111/neup.12471

M3 - Article

AN - SCOPUS:85050964170

SN - 0919-6544

VL - 38

SP - 422

EP - 427

JO - Neuropathology

JF - Neuropathology

IS - 4

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this