Purpose: We evaluated postoperative surveillance and long-term outcome for patients with familial adenomatous polyposis（FAP）who underwent total colectomy with ileorectal anastomosis（IRA）. Materials and Methods: During the 20 years from 1970 to 1990, 42 patients with FAP underwent surgery, of whom 29 were treated by total colectomy with IRA for patients with rectal sparse polyposis without cancer. Results: The mean age of the 29 cases was 28.9 years, involving 16 men and 13 women. Mean follow-up after IRA was 19.7 years （range; 1.3–30 years）. Eight of the 29（27.6 ％） treated by IRA developed cancer in the residual rectum, i.e., 3 men and 5 women. Mean follow-up between initial and second surgery was 15.0 years（range; 1.3–30）. Five of 7 developed advanced cancer, and 2 died of cancer of the residual rectum, but all received regular follow-up at least once a year. Conclusions: These cases suggest that we should be careful to undertake lifelong surveillance, and conduct the restorative proctocolectomy with ileal Jpouch anal canal anastomosis（IACA）or ileal J-pouch anal anastomosis（IAA）for FAP patients

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[Purpose] Total colectomy and ileorectal anastomosis as a prophylactic procedure for patients with familial adenomatous polyposis leaves them a risk of metachronous rectal cancers. The aim of this study is to evaluate the long-term outcome of patients with familial adenomatous polyposis after ileorectal anastomosis. [Methods] Among 28 patients with familial adenomatous polyposis undergoing surgery between 1961 to 2003, 16 underwent ileorectal anastomosis and have been followed up at our hospital by surveillance colonoscopy. We evaluated the incidence of metachronous rectal cancer and extracolonic manifestations, the rate of subsequent proctectomy, and the survival. [Results] The median follow-up time was 13.7 years. Four patients out of 16（ 25％ ） underwent proctectomy and ileal pouch-anal anastomosis for newly developed rectal lesions, at the average age of 59.8 （52–67）, after the average interval period of 17.7 years （14–23.3）. One patient had two advanced cancers after the four-year absence of surveillance colonoscopy. The other three patients, who had been endoscopically followed up every 6 to 12 months regularly, underwent second surgery for small lesions suspected of early cancers. [Conclusion] A life-long regular endoscopic surveillance and adequate treatments for small noninvasive lesions in the residual rectum are important in the management of patients with familial adenomatous polyposis after ileorectal anastomosis.

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Hereditary Non-Polyposis Colorectal Cancer （HNPCC）is a very important clinical entity in the respect of several clinical features, such as its relatively high incidence, the occurrence of multiple cancers in relatively young age, and the requirement for continuous long-term surveillance not only in the patient but also for family members. However, several problems exist in the clinical aspect of the management of HNPCC. 1, The rate of accurate diagnosis of this disease in the city hospital is very low. 2, As for the diagnostic criteria, the Japanese clinical criteria is not an efficient screening and the Amsterdam criteria also has several problems. 3, Neither analysis of microsatellite instability as a supportive diagnostic tool nor genetic testing as a final diagnosis is covered by medical insurance. 4, A useful and practical surveillance protocol has yet to be established. 5, There are very few numbers of institutes and specialists that deal with hereditary diseases in Japan, and it is necessary to construct a total social system to support advance in genetic medicine.

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Both multiple endocrine neoplasia（MEN）type 1 and 2 include parathyroid disease. We previously reported cases of familial hyperparathyroidism（ FHPT） including hyperparathyroidism with MEN and familial isolated（FIHPT）. Herein, we report the long-term postoperative follow-up for these FHPT cases. Subjects were 19 patients（twelve families）who underwent parathyroidectomy for FHPT at our department with over one year of post operative follow up. These casese included 13 MEN 1 cases（8 families）, 2 MEN2 cases（2 families）, and 4 FIHPT cases（2 families）. The average observation period was 59 months（ range from 12 months to 51 months） . Hyperplasia was noted in 11 cases（ in one case, supernumerary parathyroid glands relapsed as cancer）, and 8 adenomas. Gene examinations were performed in 16 cases. At present, all cases are continuing to be followed at our department outpatient. Results: Two of the 19 cases died due to gastrinoma and an accident, respectively, while the remaining 17 cases have survived postoperatively. There was no relapse of parathyroid adenoma after parathyroidectomy. Recurrence of hyperparathyroidism in one case was due to supernumerary gland. Only one case developed an other organ disease due to MEN during this follow-up period. This case developed ploractionoma and tumor: ACTHindependent macronodular hyperplasia（AIMAH）after parathyroidectomy. There were four cases demonstrating supernumerary parathyroid glands. In two of these cases, serum Ca and PTH.have remained within normal ranges for over 90 months after parathyroidectomy, respectively. Five persons who were single at operation have not yet married, one married patient had a second child postoperatively. At present, two cases who did not want to undergo gene examination still do not want to undergo this examination. Therefore, the appearance of disease in the lineage can not be confirmed, excluding the lineage investigation performed immediately after surgery. Conclusively, our long-term postoperative follow-up study for FHPT demonstrated few cases of concurrent disease in other organs and no newly diagnosed cases among followed families. FHPT might be a slowly developing disease. It seemed that FHPT follow-up continues to be necessary.

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It is thought that malignant tumors occur through interactions of multiple environmental factors and personal genetic factors. A normal somatic cell having an intrinsic function is able to acquire the characteristics of a malignant cell under the influence of many factors. A small percentage of all tumors have obvious familial aggregation. These entities are called familial cancer. The familial cancer syndrome is well defined for colorectal cancer, breast cancer, endocrine neoplasia, and so on. Traits of familial tumors sequentially inherit to offspring through gametes in a Mendelian fashion, most commonly in an autosomal-dominant manner. Carcinogenesis requires multiple genetic events. A patient with a familial tumor is ahead of an individual without any germline mutation in the carcinogenesis process. In such a situation, patients frequently suffer from multiple malignant tumors at a young age. On the other hand, we recognize that 10％ – 30％ of malignant diseases are polygenic or multifactorial disorders. Candidate genes involved in these entities have characteristics of low-penetrance and high frequency in the population. Therefore, findings and information with regard to low-penetrance genes may provide great benefit to cancer prevention, adding the stratification by a lot of environmental factors. We should recognize the importance of low-penetrance genes, and should synthetically investigate environmental and genetic factors. （The contents of this article were presented in the third international symposium of Institute for Advanced Medical Sciences, Hyogo College of Medicine. Also, the details regarding the concept of familial cancer were already published in the official journals of the Japan Society of Clinical Oncology; Int. J. Clin. Oncol. 9: 232–245, 2004. Because the importance of familial cancer study has been recognized from the past and is unchangeable in future, I think that it is necessary for the implications to be made known to many members of The Japanese Society for Familial Tumors. Therefore, I describe the same purport repeatedly. In addition single gene disorders, I now advocate the necessity of studying low-penetrance genes, which are involved in cancer-induction and/or cancer-promotion）

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There are some patients/family alliances for familial cancer syndromes that facilitate relationships and exchange of information among members. Since there was no such alliance for patients with MEN and their family members, we started to publish a newsletter, named“Mukuroji（soapberry）”, for them. This newsletter contains medical information, meeting information, brief essays, etc, and is released three times a year and sent to readers by e-mail.

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Objective: The present study was undertaken to examine the relationship between a family history of colorectal cancer （CRC） and perceived susceptibility to CRC. Methods: The study involved 426 subjects who participated in a community-based CRC screening program in Nagano prefecture in 2003. The questionnaire included perceived susceptibility to CRC, the family history of CRC, self-rated health, health consciousness, past history of CRC screening, health behaviors, knowledge about CRC risk factors, a-trait anxiety scale and socio-demographic characteristics. Results: Among the 387 individuals analyzed, 56 participants（14.5 ％）reported a positive family history of CRC in at least one first-degree relative（FDR+）. FDR+ individuals reported greater perceived susceptibility （8.2 ± 2.6）of developing CRC than those without family history（6.3 ± 2.7）（p ＜ 0.001）. However, 18.5 ％ of FDR+ individuals did not view themselves at an elevated risk. In multiple regression models, family history of CRC was still a significant correlate of the perceived susceptibility to CRC（β＝ 0.222, p ＜ 0.001）. Conclusions: These results provide evidence that family history of CRC is an independent predictor of perceived susceptibility. Educational interventions should promote understanding of CRC risk factors, so that individuals with a family history of CRC will be better able to adhere to CRC screening recommendations.

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[in Japanese]

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