Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients

Danielle C. Sample, Niloy Jewel Samadder, Lisa M. Pappas, Kenneth M. Boucher, Wade S. Samowitz, Therese Berry, Michelle Westover, Deepika Nathan, Priyanka Kanth, Kathryn R. Byrne, Randall W. Burt, Deborah W. Neklason

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Background: Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance. Methods: Individuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number. Results: The distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p < 0.0001). The number of gastric polyps did not differ based on genotype (p = 0.67) but advancing age correlated with severity of gastric polyposis (p = 0.019). Spigelman (modified) staging of II or greater was found in 88% of classic FAP patients and 48% attenuated FAP patients. Examples of severe and mild upper GI phenotype are observed in patients with identical APC mutations, showing that the APC mutation location is not absolutely predictive of an upper GI phenotype. Conclusions: Most FAP patients have duodenal and gastric polyps which become more prevalent and advanced with age. Standard upper endoscopic surveillance is recommended based on personal history independent of APC mutation location.

Original languageEnglish (US)
Article number115
JournalBMC Gastroenterology
Volume18
Issue number1
DOIs
StatePublished - Jul 16 2018
Externally publishedYes

Fingerprint

Adenomatous Polyposis Coli
Penetrance
Polyps
Stomach
Phenotype
Mutation
Colectomy
Duodenal Neoplasms
Genotype
Digestive System Endoscopy
Chemoprevention
Colorectal Neoplasms
Morbidity

Keywords

  • Duodenum
  • Familial adenomatous polyposis
  • Fundic gland polyps
  • Gastric
  • Polyposis

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients. / Sample, Danielle C.; Samadder, Niloy Jewel; Pappas, Lisa M.; Boucher, Kenneth M.; Samowitz, Wade S.; Berry, Therese; Westover, Michelle; Nathan, Deepika; Kanth, Priyanka; Byrne, Kathryn R.; Burt, Randall W.; Neklason, Deborah W.

In: BMC Gastroenterology, Vol. 18, No. 1, 115, 16.07.2018.

Research output: Contribution to journalArticle

Sample, DC, Samadder, NJ, Pappas, LM, Boucher, KM, Samowitz, WS, Berry, T, Westover, M, Nathan, D, Kanth, P, Byrne, KR, Burt, RW & Neklason, DW 2018, 'Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients', BMC Gastroenterology, vol. 18, no. 1, 115. https://doi.org/10.1186/s12876-018-0841-8
Sample, Danielle C. ; Samadder, Niloy Jewel ; Pappas, Lisa M. ; Boucher, Kenneth M. ; Samowitz, Wade S. ; Berry, Therese ; Westover, Michelle ; Nathan, Deepika ; Kanth, Priyanka ; Byrne, Kathryn R. ; Burt, Randall W. ; Neklason, Deborah W. / Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients. In: BMC Gastroenterology. 2018 ; Vol. 18, No. 1.
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abstract = "Background: Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90{\%} lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance. Methods: Individuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number. Results: The distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p < 0.0001). The number of gastric polyps did not differ based on genotype (p = 0.67) but advancing age correlated with severity of gastric polyposis (p = 0.019). Spigelman (modified) staging of II or greater was found in 88{\%} of classic FAP patients and 48{\%} attenuated FAP patients. Examples of severe and mild upper GI phenotype are observed in patients with identical APC mutations, showing that the APC mutation location is not absolutely predictive of an upper GI phenotype. Conclusions: Most FAP patients have duodenal and gastric polyps which become more prevalent and advanced with age. Standard upper endoscopic surveillance is recommended based on personal history independent of APC mutation location.",
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AU - Sample, Danielle C.

AU - Samadder, Niloy Jewel

AU - Pappas, Lisa M.

AU - Boucher, Kenneth M.

AU - Samowitz, Wade S.

AU - Berry, Therese

AU - Westover, Michelle

AU - Nathan, Deepika

AU - Kanth, Priyanka

AU - Byrne, Kathryn R.

AU - Burt, Randall W.

AU - Neklason, Deborah W.

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N2 - Background: Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance. Methods: Individuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number. Results: The distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p < 0.0001). The number of gastric polyps did not differ based on genotype (p = 0.67) but advancing age correlated with severity of gastric polyposis (p = 0.019). Spigelman (modified) staging of II or greater was found in 88% of classic FAP patients and 48% attenuated FAP patients. Examples of severe and mild upper GI phenotype are observed in patients with identical APC mutations, showing that the APC mutation location is not absolutely predictive of an upper GI phenotype. Conclusions: Most FAP patients have duodenal and gastric polyps which become more prevalent and advanced with age. Standard upper endoscopic surveillance is recommended based on personal history independent of APC mutation location.

AB - Background: Patients with familial adenomatous polyposis (FAP) frequently undergo colectomy to reduce the 70 to 90% lifetime risk of colorectal cancer. After risk-reducing colectomy, duodenal cancer and complications from duodenal surgeries are the main cause of morbidity. Our objective was to prospectively describe the duodenal and gastric polyp phenotype in a cohort of 150 FAP patients undergoing pre-screening for a chemoprevention trial and analyze variables that may affect recommendations for surveillance. Methods: Individuals with a diagnosis of FAP underwent prospective esophagogastroduodenoscopy using a uniform system of mapping of size and number of duodenal polyps for a 10 cm segment. Gastric polyps were recorded as the total number. Results: The distribution of the count and sum diameter of duodenal polyps were statistically different in two genotype groups, those with APC mutations associated with classic FAP had a greater count (median 17) and sum diameter of polyps (median 32 mm) than those with APC mutations associated with attenuated FAP (median count 4 and median sum diameter of 7 mm) (p < 0.0001). The number of gastric polyps did not differ based on genotype (p = 0.67) but advancing age correlated with severity of gastric polyposis (p = 0.019). Spigelman (modified) staging of II or greater was found in 88% of classic FAP patients and 48% attenuated FAP patients. Examples of severe and mild upper GI phenotype are observed in patients with identical APC mutations, showing that the APC mutation location is not absolutely predictive of an upper GI phenotype. Conclusions: Most FAP patients have duodenal and gastric polyps which become more prevalent and advanced with age. Standard upper endoscopic surveillance is recommended based on personal history independent of APC mutation location.

KW - Duodenum

KW - Familial adenomatous polyposis

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KW - Gastric

KW - Polyposis

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