Adult Diffuse Astrocytoma in the Medulla Oblongata: Molecular Biological Analyses Including H3F3A Mutation of Histone H3.3

• Uekawa Ken

  Department of Neurosurgery, Kumamoto University School of Medicine

• Nakamura Hideo

  Department of Neurosurgery, Kumamoto University School of Medicine

• Shinojima Naoki

  Department of Neurosurgery, Kumamoto University School of Medicine

• Takezaki Tatsuya

  Department of Neurosurgery, Kumamoto University School of Medicine

• Yano Shigetoshi

  Department of Neurosurgery, Kumamoto University School of Medicine

• Kuratsu Jun-ichi

  Department of Neurosurgery, Kumamoto University School of Medicine

抄録

Unlike in children, brain stem gliomas in adult are rare and still poorly understood. In addition, most adult brain stem gliomas result predominantly in the pons and are less often found in the medulla oblongata. Here, we report a case of an adult glioma in the medulla oblongata and its molecular biological features. A 46-year-old male presented with gait disturbance, paresthesia, and dysphagia. Magnetic resonance imaging (MRI) showed a diffuse hyper-intensive lesion in the medulla oblongata on a T₂-weighted image without gadolinium contrast enhancement. We performed an open biopsy and the lesion was pathologically diagnosed as a diffuse astrocytoma. Molecular biological analyses revealed the absence of histone H3.3 mutation (H3F3A K27M), and presence of methylation of O-6-methylguanine-DNA methyltransferase (MGMT) promoter and a mutation in isocitrate dehydrogenase 1 (IDH-1). The patient received local radiotherapy and temozolomide chemotherapy. The patient’s symptoms were ameliorated, and MRI showed no tumor growth at 6 months after the initial treatment. Biopsy for brain stem lesions is generally thought to have risk of complications, but if performed minimally, it is useful to diagnose and determine treatment strategy. Obtaining patient characteristics and molecular biological features will provide insight towards therapeutic treatment for adult brain stem gliomas.

収録刊行物

• NMC Case Report Journal

  NMC Case Report Journal 3 (2), 29-33, 2016

  一般社団法人 日本脳神経外科学会

キーワード

• diffuse astrocytoma
• medulla oblongata
• histone H3.3 mutation (H3F3A K27M)
• O-6-methylguanine-DNA methyltransferase promoter
• adult

詳細情報

• CRID: 1390001205741299584
• NII論文ID: 130005142963
• DOI: 10.2176/nmccrj.cr.2015-0012
• ISSN: 21884226
• Web Site: https://www.jstage.jst.go.jp/article/nmccrj/3/2/3_cr.2015-0012/_pdf
• 本文言語コード: en
• データソース種別:
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