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医学部 医学科 臨床神経科学講座脳神経外科学分野 |
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助教 |
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Okuyama H., Yokogami K., Yamashita S., Okita Y.
Human Pathology Reports 43 2026年3月
掲載種別：研究論文（学術雑誌） 出版者・発行元：Human Pathology Reports
Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases. We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic.
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山下 真治, 奥山 洋信, 横上 聖貴, 沖田 典子
Human Pathology Reports 43 300809 2025年12月
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：Elsevier BV
Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases. We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic.
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Yamashita S, Matsumoto F, Okuyama H, Ogasawara N, Tamura M, Kawano T, Yokogami K, Kiwaki T, Fukushima T, Sato Y, Tomonaga T, Okita Y
NMC case report journal 12 ( 0 ) 369 - 375 2025年
記述言語：英語 掲載種別：研究論文（学術雑誌） 出版者・発行元：一般社団法人 日本脳神経外科学会
A 5-year-old boy presented to our hospital with ptosis and an abnormal ocular position. Magnetic resonance imaging showed a well-defined mass measuring 20 mm in diameter in the medial sphenoid bone extending to the orbit and compressing the external ocular muscle. The patient underwent total surgical excision and was subsequently diagnosed with a solid variant of aneurysmal bone cyst via molecular integrated diagnosis. Solid variant of aneurysmal bone cyst is an extremely rare subtype of aneurysmal bone cyst, accounting for 0.2% of all primary bone tumors. It is characterized by the absence of a solid cystic component, which is difficult to diagnose via conventional hematoxylin and eosin staining. Molecular analyses revealed that this subtype is also characterized by the rearrangement of <i>USP6</i> and the absence of the H3F3A mutation. This report discusses the clinical features of this extremely rare neoplastic lesion, the importance of an integrated diagnosis, and treatment options.
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A Case Report of an Immature Pituitary-Specific Transcription Factor 1 (PIT1)-Lineage Pituitary Neuroendocrine Tumor Along With Its Cytology and Ultrastructural Studies 査読あり
Nobuyuki Oguri , Takako Tokumitsu , Takashi Watanabe , Hironobu Okuyama , Yuichiro Sato
Cureus 16 ( 12 ) 1 - 7 2024年12月
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Factors associated with the progression of traumatic intracranial hematoma during interventional radiology to establish hemostasis of extracranial hemorrhagic injury in severe multiple trauma patients. 査読あり
Ochiai H, Abe T, Okuyama H, Nagamine Y, Morisada S, Kanemaru K
Acute medicine & surgery 7 ( 1 ) e580 2020年1月