頭蓋咽頭腫の疫学・遺伝・病態

Etiology, Genetic Features and Clinical Presentations in Craniopharyngiomas

Point

・頭蓋咽頭腫は頭蓋咽頭管から発生する良性上皮性腫瘍（WHO grade 1）であり，病理学的にはエナメル上皮腫型と扁平上皮乳頭型に分けられている．

・頭蓋咽頭腫のエナメル上皮腫型と扁平上皮乳頭型では，おのおの異なる遺伝子異常の関与が報告されている．

・頭蓋咽頭腫は，視機能障害，下垂体機能障害，視床下部障害，認知機能障害など多様な症状を呈する．

　Craniopharyngiomas are among the most challenging intracranial tumors for neurosurgeons. Their management is complicated due to growth patterns such as infiltration into the pituitary stalk, chiasma, and hypothalamus. Therefore, patients may present with various conditions such as endocrine disorders, visual disturbances, or hypothalamic dysfunction in the first medical examination. Moreover, surgical management is challenging because of the high risk of recurrence. Two well-known histological subtypes include adamantinomatous and papillary craniopharyngiomas, and recent advances in genetic analysis have provided significant findings about these subtypes. The adamantinomatous subtype can be distinguished by mutations in CTNNB1, whereas the V600E mutation of the BRAF gene characterizes the papillary subtype. This review describes the etiology, genetic features, and clinical presentations of craniopharyngiomas.