Clinical features and distribution of the APC variant in duodenal and ampullary polyps in patients with familial adenomatous polyposis: a multicenter retrospective cohort study in Japan

Yasuyuki Miyakura1,2,3, Tatsuro Yamaguchi3,4, Alan Kawarai Lefor2, Sawako Tamaki1, Akinari Takao3,5, Misato Takao3,6, Yoshiko Mori7, Kenichi Chikatani7, Hideyuki Ishida3,7, Mitsuhiro Kono8, Yoji Takeuchi3,8, Hideki Ishikawa9, Toshiya Nagasaki3,10, Kazuhito Sasaki3,11, Takaaki Matsubara3,12, Keiji Hirata3,13, Fumitaka Taniguchi14, Kohji Tanakaya3,14, Naohiro Tomita3,15, Yoichi Ajioka16,17
1Department of Surgery, Saitama Medical Center, Jichi Medical University, Saitama-Ken, Japan
2Department of Surgery, Jichi Medical University, Tochigi, Japan
3The Committee of Hereditary Colorectal Cancer of the Japanese Society for Cancer of the Colon and Rectum, Tokyo, Japan
4Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan
5Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, Japan
6Department of Surgery, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan
7Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University, Kawagoe, Japan
8Department of Gastrointestinal Oncology, Osaka International Cancer Center, Osaka, Japan
9Ishikawa Gastroenterological Clinic, Osaka, Japan
10Department of Gastroenterological Surgery, Cancer Institute Hospital, Japanese Foundation for Cancer Research, Tokyo, Japan
11Department of Surgical Oncology, Faculty of Medicine, University of Tokyo, Tokyo, Japan
12Department of Surgery, Hyogo College of Medicine, Hyogo, Japan
13Department of Surgery I, School of Medicine, University of Occupational and Environmental Health, Fukuoka, Japan
14Department of Surgery, National Hospital Organization Iwakuni Clinical Center, Iwakuni, Japan
15Cancer Treatment Center, Toyonaka Municipal Hospital, Toyonaka, Japan
16Japanese Society for Cancer of Colon and Rectum, Tokyo, Japan
17Division of Molecular and Diagnostic Pathology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan

Tóm tắt

Management of duodenal or ampullary adenomas in patients with familial adenomatous polyposis (FAP) is a major challenge for clinicians. Insufficient data are available to evaluate the clinical manifestations and distribution of adenomatous polyposis coli (APC) variants in these patients. We enrolled 451 patients with data regarding duodenal or ampullary polyps from 632 patients with FAP retrospectively registered in a nationwide Japanese multicenter study. Clinicopathological features and distribution of APC variants were compared between patients with and without duodenal or ampullary polyps. Duodenal and ampullary polyps were found in 59% and 18% of patients with FAP, respectively. The incidence of duodenal cancer was 4.7% in patients with duodenal polyps, and that of ampullary cancer was 18% in patients with ampullary polyps. Duodenal polyps were significantly associated with the presence of ampullary polyps and jejunal/ileal polyps. Duodenal polyps progressed in 35% of patients with a median follow-up of 776 days, mostly in those with early Spigelman stage lesions. Ampullary polyps progressed in 50% of patients with a follow-up of 1484 days. However, only one patient developed a malignancy. The proportion of patients with duodenal polyps was significantly higher among those with intermediate- or profuse-type APC variants than attenuated-type APC variants. The presence of duodenal polyps was significantly associated with ampullary and jejunal/ileal polyps in patients with intermediate- or profuse-type APC variants. Periodic endoscopic surveillance of the papilla of Vater and small intestine should be planned for patients with FAP with duodenal polyps.

Tài liệu tham khảo

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