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Diencephalic pediatric low-grade glioma harboring the BRAF V600E mutation presenting with various morphologies in sequential biopsy specimens

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Title: Diencephalic pediatric low-grade glioma harboring the BRAF V600E mutation presenting with various morphologies in sequential biopsy specimens
Authors: Ishi, Yukitomo Browse this author
Hatanaka, Kanako C. Browse this author
Yamaguchi, Shigeru Browse this author
Fujita, Hiromi Browse this author
Motegi, Hiroaki Browse this author
Kobayashi, Hiroyuki Browse this author
Terasaka, Shunsuke Browse this author →KAKEN DB
Houkin, Kiyohiro Browse this author →KAKEN DB
Keywords: BRAF 600E
Pilocytic astrocytoma
Issue Date: Oct-2017
Publisher: Springer
Journal Title: Brain Tumor Pathology
Volume: 34
Issue: 4
Start Page: 165
End Page: 171
Publisher DOI: 10.1007/s10014-017-0298-4
PMID: 28836232
Abstract: A 5-year-old boy underwent biopsy of an intra-axial calcified tumor in the hypothalamus, which was incidentally found. Based on the presence of ganglion-like cells combined with glial cell element, the pathological diagnosis was ganglioglioma. Because the tumor grew gradually in size over the next 2 years, he underwent chemotherapy with temozolomide. However, at 8 years of age, the boy developed hydrocephalus and the cystic lesion had re-grown. Endoscopic cyst fenestration and tumor biopsy was performed, and pathological diagnosis was tentatively oligodendroglioma based on the presence of tumor cells with a perinuclear halo. At 10 years of age, hydrocephalus recurred and the cystic lesion had re-grown. A second round of endoscopic cyst fenestration and tumor biopsy led to a pathological diagnosis of pilocytic astrocytoma due to a biphasic appearance with areas of dense tumor cells and microcystic areas, tumor cells with eosinophilic processes, and the presence of an eosinophilic granular body. Genetic analysis of the first biopsy successfully identified the BRAF V600E mutation. Because pathological diagnosis of diencephalic low-grade glioma harboring BRAF V600E would be sometimes difficult due to pathological variations, pathological diagnosis should be performed under the consideration of molecular diagnosis of BRAF V600E for optimal diagnosis and treatment.
Rights: The final publication is available at
Type: article (author version)
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 伊師 雪友

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