上行結腸癌をもったPeutz-Jeghers症候群の1例とその家系

A Case of Peutz-Jeghers' Syndrome and Its Family Tree Associated with Cancer of the Colon Ascendens

はじめに

　Peutz-Jeghers症候群の報告は近年増加の傾向にある．Peutz¹⁾（1921）の記載と，Jeghers²⁾（1949）の系統的な報告によって，病像の確立されたこの症候群は，すでに外国では200例以上³⁾，わが国でも長州⁴⁾（1955）以来80例以上の報告⁵⁾がある．

　本症候群で臨床上もっとも関心の払われる事項のひとつは，ポリポージスの癌化の問題であろう．他の消化管ポリポージスとは異なり，本症候群のポリポージスの悪性化を否定する報告⁶⁾⁷⁾が多い．

　筆者らは最近，偶然口唇部のメラニン色素斑を指摘された主婦に，上行結腸癌と腸管ポリポージスとが併存している症例を経験し，さらにその家系に明らかな遺伝的関係を見出した．ここに本症例と本症候群に関連する臨床上の2，3の問題点について報告する．

　A 45-year-old housewife had since a few years ago episodes of right upper abdominal pain with subsequent small amount of tarry stool. Nevertheless, she underwent no medical treatment. In Sept. 1968 quite accidentally pigmentation of her lips were noticed by a doctor and she was advised to undergo thorough check-up of the digestive system. According to her, pigmentation had long been seen on the lips, buccal mernbrane, the skin around the mouth, palms and soles, but since four years ago it had become less and less noticiable.

　No abnormality was observed in the stomach both by x-ray and endoscopic examinations, but in the ileum as well as in the colon about 30 polyps were visualized. X-ray also dernonstrated in the colon ascendens a shadow defect clearly indicative of malignancy together with a picture of in tussusception there. The diagnosis of cancer of the colon was thus arrived at. Histologically, the tumor in the ascending colon was adenocarcinoma, and polyposis in the ileum and colon was adenomatous with no sign of malignancy.

　In one of her siblings as well as in four out of her five children melanin pigmentation was seen on the lips, nasal orifices, buccal mucosa, etc. Polyps were also demonstrated by both x-ray and endoscopy in the stomach, small bowel and colon of her first child (male, 19 years old); in the stomach, sigmoid and rectum of her second child (female, 14 years old); in the stomach, ascending colon and rectum of her fourth child (female, 10 years old). A polypoid shadow defect was also visualized by x-ray in the stomach of her fifth child (6-year-old boy).

　This is case of Peutz-Jeghers’ syndrome with every manifestation of Jeghers’ trias and presumably it is the first report of Peutz-Jeghers’ syndrome accompanied with colon carcinoma. It is also emphasized here that in the x-ray examination of the colon, double contrast method surpasses others in the study of protruding lesion.