Neurological Surgery 脳神経外科41巻6号

2013年06月発行

症例

白血病に対する全脳脊髄照射後に頭蓋内外に進展する骨肉腫を生じたLi-Fraumeni類縁症候群の1例

著者： 吉村淳一¹ 棗田学¹ 西平靖² 西山健一¹ 斉藤明彦¹ 岡本浩一郎¹ 高橋均² 藤井幸彦¹

所属機関： ¹新潟大学脳研究所脳神経外科学分野 ²新潟大学脳研究所病理学分野

ページ範囲：P.499 - P.505

Ⅰ．はじめに

　Li-Fraumeni症候群は肉腫，乳がん，白血病，副腎皮質がん，脳腫瘍などを伴う常染色体優性遺伝形式の家族性がん多発症候群で，50％以上にTP53遺伝子の胚細胞変異が認められる^7,17)．今回われわれはTP53遺伝子の胚細胞変異を有する家族性がん患者で，白血病に対する全脳脊髄照射後16年を経て頭蓋内骨肉腫を発病した症例を経験した．Li-Fraumeni症候群および類縁疾患における頭蓋骨骨肉腫発生例の報告は1例のみであり⁹⁾，放射線誘発と考えられる頭蓋骨骨肉腫としては最初の例と考えられるので報告する．

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