The Impact of Familial Adenomatous Polyposis on the Tumorigenesis and Mortality at the Several Organs

Abstract

The authors reviewed the case records of 1050 familial adenomatous polyposis (FAP) patients who were registered at their institution. The organ-specific morbidity and mortality rates of malignant tumor in FAP patients were compared with those of the general population of Japan, and the prognosis after rectum-preserving operation also was calculated. The cumulative prevalence of colorectal carcinoma at the age of 44 years was 0.52 for men and 0.61 for women. The observed/expected morbidity ratio was 20.9 (95% confidence interval, 10.8-36.6) for thyroid carcinoma, 3.08 (2.03-7.75) for gastric carcinoma, and 295 (263-330) for colorectal carcinoma. The observed/expected mortality ratios was 250 (112-447) for periampullary and small intestinal carcinoma, 3.43 (1.77-6.0) for gastric carcinoma, and 210 (183-241) for colorectal carcinoma. The risk of rectal carcinoma after ileorectal anastomosis was 13% (8.5-17.5%) at 10 years and 37% at 20 years. The results clarified the impact of FAP on the carcinogenesis in several organs as a whole including preserved rectum, and suggested a direction of the rational treatment of FAP.

Clinical Characteristics of Gastric Cancer in Patients with Familial Adenomatous Polyposis

“…Gastric cancer was found in 27 of 1,050 (2.6%) patients with FAP registered in Japan (Iwama et al 1993), while the rate of FAP-associated gastric cancer was 7.1% in our study. Park et al (1992) reported that three patients with gastric cancer were identified in 72 (4.2%) patients with FAP in Korea.…”

“…Gastric fundic gland polyps (FGPs), gastric cancer, duodenal adenoma, and ampullary adenoma complicate in patients with FAP (Kashiwagi and Spiegelman 2000). Among these lesions, the frequency of gastric cancer associated with FAP is not high, but its incidence differs between Western countries and Japan and Korea (Jagelman et al 1988;Park et al 1992;Iwama et al 1993). This difference could be attributed to the increased occurrence rate of gastric cancer in Asian countries.…”

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis

“…This finding is in agreement with the data of Klemmer et al, 18 who reported a lifetime risk of 13% in females vs. 8% in males, and with the predominance of female cases reported by several authors. 17,19,20,[22][23][24][25] The latter observation, however, was not confirmed by other groups. 21,26 An increased risk for female gender is consistent with the observation that desmoid cells may express estrogen receptors and are inhibited in their in vitro proliferation by anti-estrogen compounds.…”

Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future

“…Moreover, GC risk is elevated in several other hereditary cancer syndromes, namely Lynch syndrome caused by germline mutations in one of the DNA mismatch repair genes [11][12][13], Li-Fraumeni syndrome caused by TP53 germline mutations [14][15][16], familial adenomatous polyposis caused by APC germline mutations [17,18], Peutz-Jeghers syndrome caused by STK11 germline mutations [19][20][21], juvenile polyposis syndrome caused by SMAD4 or BMPR1A germline mutations [22,23], and hereditary breast or ovarian cancer syndrome caused by BRCA1 or BRCA2 germline mutations [10,24,25].…”