家族性大腸ポリポージスの1家系

Familial Polyposis Coli, A Report of One Family Pedigree

　家族性大腸ポリポージス（F症）は稀な疾患であるが，きわめて悪性化しやすく，かつ遺伝的要因が濃厚な疾患としてよく知られている．われわれは本症の1家系について検討する機会を得たので報告する．

　There have been five cases of rectal or colonic cancer during the three generations of one family. Three of them were confirmed as familial polyposis coli (FPC) and the remaining two were also strongly suspected to be FPC. The main symptoms of all these cases were intractable diarrhea often associated by hematorrhea. Two cases were actualy examined by us.

　The first case, propositus, was a 23-year-old housewife. Her large bowel had numerous small hemispherical polyps composed of adenoma, typical feature of FPC. At the transverse colon was recognized a villous tumor with a focal carcinoma and at the sigmoid colon were found two cancer lesions. One was an advanced cancer of Borrmann 2 type and the other was a microcarcinoma within the mucosal layer. All cancerous lesions were histologically well-differentiated adenocarcinoma.

　Her stomach had also many polyps of small size, especially denser in the upper part, and further in the duodenum some minute polyps were observed.

　The second case, mother of the above, had already suffered from rectal cancer. She also had lots of small polyps in the stomach like her daughter, more abundantly in the upper part, and in the antral portion was found a hill-like polypoid lesion. In the duodenum were also recognized some minute polyps. All these polyps of the upper GI tract showed no malignancy in the biopsiy specimens. In her mandible there was a faint shadow showing a osteoma-like lesion and on her left femoral region a fist-sized soft tissue tumor was noticed.

　The first FPC case in this family is supposed to be the grandfather of propositus. In his ancestor and brothers were not detected any cases of colonic diseases, but in his descedants successively FPC cases have appeared. The first FPC in this family was thus considered to have arisen by mutation.

　It is necessary for practitioners to undertake widescale examinations of FPC, on the basis of the recognition that FPC is first a hereditary disease with a high risk of cancer, and secondly a generalized disorder involving not only the large bowel but also the upper GI tract and other organs.