Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis
Abstract Background Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high. We conducted a retrospective study to investigate the progression of n...
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13053-023-00264-2 |
| _version_ | 1797413791125733376 |
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| author | Hiroko Nakahira Yoji Takeuchi Yusaku Shimamoto Shingo Ishiguro Hiroshi Yunokizaki Yasumasa Ezoe Fumie Fujisawa Ryu Ishihara Tetsuji Takayama Teruhiko Yoshida Michihiro Mutoh Hideki Ishikawa |
| author_facet | Hiroko Nakahira Yoji Takeuchi Yusaku Shimamoto Shingo Ishiguro Hiroshi Yunokizaki Yasumasa Ezoe Fumie Fujisawa Ryu Ishihara Tetsuji Takayama Teruhiko Yoshida Michihiro Mutoh Hideki Ishikawa |
| author_sort | Hiroko Nakahira |
| collection | DOAJ |
| description | Abstract Background Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high. We conducted a retrospective study to investigate the progression of non-ampullary duodenal adenomas (NADAs) and risk factors for advanced lesions in patients with FAP. Methods Of 248 patients with 139 pedigrees at 2 institutes, we assessed 151 patients with 100 pedigrees with a pathogenic germline variant in the adenomatous polyposis coli gene, excluding mosaic variants. We evaluated the prevalence of NADAs in patients with FAP, the progression of these adenomas to advanced adenoma during the observation period, and the risk factors for the lifetime development of high-grade dysplasia (HGD), large (≥ 10 mm) duodenal adenomas, and Spiegelman stage IV. Results During the median observation period of 7 years, the incidences of patients with NADAs, with more than 20 polyps, with polyps ≥ 10 mm, with HGD, and with stage IV at the last esophagogastroduodenoscopy were increased 1.6-fold, 1.7-fold, 5-fold, 22-fold, and 9-fold, respectively. Intramucosal cancer occurred in three patients (2%), but no patients developed invasive cancer during the observation period because we performed endoscopic intervention for advanced adenomas. Stage progression was observed in 71% of 113 patients. Stage IV was more common in women, patients with a history of colectomy, and those with a 3’ side mutation in their adenomatous polyposis coli gene. Conclusions NADAs in patients with FAP frequently become exacerbated. Our findings suggest that patients with FAP who develop duodenal adenomas should be surveyed to prevent the development of duodenal cancer. |
| first_indexed | 2024-03-09T05:23:58Z |
| format | Article |
| id | doaj.art-186ebff72d824b75b91926479fb9a563 |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-03-09T05:23:58Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-186ebff72d824b75b91926479fb9a5632023-12-03T12:38:22ZengBMCHereditary Cancer in Clinical Practice1897-42872023-11-0121111410.1186/s13053-023-00264-2Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposisHiroko Nakahira0Yoji Takeuchi1Yusaku Shimamoto2Shingo Ishiguro3Hiroshi Yunokizaki4Yasumasa Ezoe5Fumie Fujisawa6Ryu Ishihara7Tetsuji Takayama8Teruhiko Yoshida9Michihiro Mutoh10Hideki Ishikawa11Department of Gastrointestinal OncologyDepartment of Gastrointestinal OncologyDepartment of Gastrointestinal OncologyPathology & Cytology Laboratories JapanIshikawa Gastroenterology ClinicIshikawa Gastroenterology ClinicDepartment of Genetic Oncology, Division of Hereditary Tumors, Osaka International Cancer InstituteDepartment of Gastrointestinal OncologyDepartment of Gastroenterology and Oncology, Institute of Biomedical Sciences, Tokushima University Graduate SchoolDepartment of Genetic Medicine and Services, National Cancer Center HospitalDepartment of Molecular-Targeting Cancer Prevention, Graduate School of Medical Science, Kyoto Prefectural University of MedicineIshikawa Gastroenterology ClinicAbstract Background Patients with familial adenomatous polyposis (FAP) have a lifetime risk of developing duodenal adenomas approaching 100%, and the relative risk for duodenal cancer compared with the general population is high. We conducted a retrospective study to investigate the progression of non-ampullary duodenal adenomas (NADAs) and risk factors for advanced lesions in patients with FAP. Methods Of 248 patients with 139 pedigrees at 2 institutes, we assessed 151 patients with 100 pedigrees with a pathogenic germline variant in the adenomatous polyposis coli gene, excluding mosaic variants. We evaluated the prevalence of NADAs in patients with FAP, the progression of these adenomas to advanced adenoma during the observation period, and the risk factors for the lifetime development of high-grade dysplasia (HGD), large (≥ 10 mm) duodenal adenomas, and Spiegelman stage IV. Results During the median observation period of 7 years, the incidences of patients with NADAs, with more than 20 polyps, with polyps ≥ 10 mm, with HGD, and with stage IV at the last esophagogastroduodenoscopy were increased 1.6-fold, 1.7-fold, 5-fold, 22-fold, and 9-fold, respectively. Intramucosal cancer occurred in three patients (2%), but no patients developed invasive cancer during the observation period because we performed endoscopic intervention for advanced adenomas. Stage progression was observed in 71% of 113 patients. Stage IV was more common in women, patients with a history of colectomy, and those with a 3’ side mutation in their adenomatous polyposis coli gene. Conclusions NADAs in patients with FAP frequently become exacerbated. Our findings suggest that patients with FAP who develop duodenal adenomas should be surveyed to prevent the development of duodenal cancer.https://doi.org/10.1186/s13053-023-00264-2Familial adenomatous polyposisNon-ampullary duodenal adenomaAdvanced adenomaEndoscopic surveillanceProgression |
| spellingShingle | Hiroko Nakahira Yoji Takeuchi Yusaku Shimamoto Shingo Ishiguro Hiroshi Yunokizaki Yasumasa Ezoe Fumie Fujisawa Ryu Ishihara Tetsuji Takayama Teruhiko Yoshida Michihiro Mutoh Hideki Ishikawa Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis Hereditary Cancer in Clinical Practice Familial adenomatous polyposis Non-ampullary duodenal adenoma Advanced adenoma Endoscopic surveillance Progression |
| title | Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis |
| title_full | Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis |
| title_fullStr | Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis |
| title_full_unstemmed | Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis |
| title_short | Progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis |
| title_sort | progression of duodenal neoplasia to advanced adenoma in patients with familial adenomatous polyposis |
| topic | Familial adenomatous polyposis Non-ampullary duodenal adenoma Advanced adenoma Endoscopic surveillance Progression |
| url | https://doi.org/10.1186/s13053-023-00264-2 |
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