Truncating APC gene mutation proximal to exon 9 may contribute to the less frequent development of duodenal adenomatosis in FAP, but severity and progression of duodenal adenomatosis do not seem to be determined by APC gene mutation alone.

Background: Serrated adenoma is a precursor of colorectal cancer. Aim: To clarify possible genotype-phenotype correlations of serrated adenomas in familial adenomatous polyposis (FAP). Patients: Eleven patients from eight families with FAP. Methods: We performed total colonoscopy with multiple biopsies in patients. Neoplasia with a serrated glandular structure was regarded as a serrated adenoma. In each patient, germline mutations of the APC gene were determined. Colonic phenotype was compared with germline mutations of the APC gene. Results: Serrated adenomas were found in three patients. These patients had macroscopic polyps <100 in number. Pedigrees with serrated adenomas had the truncating germline APC mutation at codon 161, 332, or 1556 while in the other pedigrees mutations were found between codons 554 and 1324. Conclusions: In FAP, serrated adenoma may be a phenotype characteristic of the attenuated form.

To evaluate the role of Lugol dye endoscopy in diagnosing early esophageal cancer, we reviewed findings of dye endoscopy and those of conventional endoscopy in 17 early esophageal cancers that were demonstrated as unstained areas on dyeing with Lugol solution. Histologically, all 17 lesions were squamous cell carcinomas; 10 lesions being mucosal carcinomas, the remaining 7 lesions mucosal carcinomas spreading beyond the epithelial layer. The lesions ranged from 0.7 to 4.0 cm in size. Abnormal findings were noted under conventional endoscopy in all but 3 lesions diagnosed only by postoperative pathohistology, regardless of the size and depth of the invasion. Under conventional endoscopy, the following types of morphological changes were noted in 8 (57.1%) of the 14 lesions: slight elevation (1 lesion), depression (6 lesions), and deformed arc (1 lesion). A color change was noted endoscopically in 12 of the 14 lesions (85.7%), this change being redness in all 12 lesions. The unstained area on the resected specimen was consistent with the size of the lesion that was determined by using serially sectioned blocks in all cases. Moreover, the former completely (100%) coincided with the histological area where PAS reaction was weak. In conclusion, under conventional endoscopy, a color change such as redness is an important indicator of minute or superficial esophageal cancer, as is such morphological change as depression, elevation or deformed arc. On the other hand, Lugol dye endoscopy is very helpful in detecting esophageal cancer unassociated with any morphological or color change. It also provides accurate information about the extent of the cancer.

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Our case suggests that treatment with sulindac accompanied by intensive colonoscopic surveillance may be a choice of management for attenuated familial adenomatous polyposis.