脳腫瘍を合併した家族性大腸ポリポージス（Turcot症候群）―1治験例ならびに文献報告15例についての検討

Familial Adenomatosis of the Colon Associated with Brain Tumor (Turcot's Syndrome): Report of a Case and Review of the Literature

　最近家族性大腸ポリポージス（familial adenomatosis of the colon）（以下FACと略す）に対する詳細な臨床研究が行なわれるようになり，従来大腸病変のみが診断・治療の対象とされてきた本症において，大腸以外の臓器，組織にも高頻度に腫瘍性病変を合併することが報告され，遺伝学上でもまた臨床面でも多大の関心を呼んでいる．著者らはさきにFACに上部消化管病変の合併が多いことを報告し，その中で多発胃癌を合併した症例の姉に脳腫瘍の合併が見られたことに触れたが¹⁾，今回その詳細を報告するとともに，文献に見られるFAC・脳腫瘍合併例，すなわちTurcot症候群（T症）を集計し，その病態につき若干の知見を得ることができたので報告する．

　A report is made of a 21-year-old woman with familial adenomatosis of the colon associated with brain tumor, agenesis of the corpus callosum and porencephaly in addition to two punched out lesions of the skull, café-au-lait spots on the skin and two adenomatous polyps in the duodenum. She underwent a total colectomy with ileorectal anastomosis in May 1972 and was followed up since that time. In September 1974, brain scanning and carotid angiography revealed a large less-vascular mass in the left frontal lobe. Surgery was carried out and the tumor, astrocytoma grade Ⅲ, was removed subtotally. Her sister, aged 19 years, also suffered from colonic adenomatosis with multiple gastric cancers, a right ovarian cyst, café-au-lait spots and subcutaneous lipomas. Seven members of the family died of intestinal cancer.

　In addition to the present case, fifteen cases of colonic polyposis complicated by brain tumor, mainly glioma, have so far been reported in the literature. These cases are distributed from 9 to 26 years in age except for one in eighth decade, and the male to female ratio is 10: 6. Besides brain tumor, such associations as thyroid cancer, Gardner's stigmata, von Recklinghausen's disease, upper gastrointestinal adenomas etc. have been recorded in these cases.

　These associated lesions including brain tumor seem to be a part of the manifestations of specific oncogenetic disposition in familial adenomatosis coli.