cqvip:Background: Hereditary diffuse gastric cancer (HDGC) is defined by germline mu tations in the E-cadherin gene, CDH-1.The first family in which CDH-1 mutatio ns were identified was a large Maori kindred, where lifetime penetrance is 70%. Prophylactic gastrectomy is an unacceptable option for many mutation carriers. T he results of annual chromoendoscopic surveillance using the methylene blue/cong o red technique in 33 mutation carriers over a five year period are described. P atients and methods: Thirty three confirmed CDH-1 mutation carriers(18 males, 1 5 females), median age 32 years (range 14-69),were enrolled in 1999-2003. Medi cal records, endoscopy, and pathology were reviewed retrospectively. Results: Ov er five years, 99 surveillance endoscopies were performed, of which 93 were chro mo-dye enhanced. Sixty nine chromoendoscopies were normal. In 24 procedures, 1 -6 pale areas/stomach (size 2-10 mm) were detected post chromo-dye applicatio n (totalling 56 pale lesions). One biopsy was taken from each pale lesion: 23 le sions (41%) showed signet ring cell carcinoma (10 patients),10 lesions (18%) g astritis (four patients), and 23 (41%) normal mucosa (10 patients). No chromo- dyes were used in six procedures with macroscopic lesions (two HDGC, four ulcera tion).Total gastrectomies from patients with carcinoma were macroscopically norm al but pathological mapping showed multiple microscopic foci of early signet rin g cell carcinoma. Correlation of chromoendoscopic and gastrectomy findings showe d that congo red/methylene blue detected carcinoma foci 4-10 mm in size but not foci< 4 mm. Conclusions: The use of chromoendoscopy following normal white ligh t gastroscopy facilitated detection of early gastric carcinoma foci not visible with white light gastroscopy. If these findings are validated in other HDGC kind red, chromogastroscopy represents an improved survei- llance technique that can be safely considered alongside prophylactic gastrect omy.
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