Skip to main content
Top
Published in: Clinical Journal of Gastroenterology 6/2021

01-12-2021 | Colonoscopy | Case Report

Importance of sessile serrated lesions in a patient with familial adenomatous polyposis

Authors: Motoki Watanabe, Hideki Ishikawa, Shingo Ishiguro, Michihiro Mutoh

Published in: Clinical Journal of Gastroenterology | Issue 6/2021

Login to get access

Abstract

A 28-year-old male visited hospital because his mother had been diagnosed with familial adenomatous polyposis (FAP) with a pathological variant of the APC gene. Total colonoscopy showed that he has more than 100 polyps distributed throughout the colorectum, and the APC gene variant was also detected. After he was diagnosed with FAP, he received information that surgery was currently the only way to prevent the development of colorectal cancer. However, he firmly declined to undergo surgical procedures and decided to have strict follow-up with frequent endoscopic polypectomy to prevent the development of colorectal cancer. At the first endoscopy, polypectomy was performed on 52 polyps. Histological analysis of the dissected polyps showed that they were all adenomas, but adenocarcinoma was not detected. The second endoscopic polypectomy was performed after 4 months later. We found a pale 20 mm wide flat, elevated type polyp in the ascending colon with an adherent mucus cap that was resistant to washing off. After endoscopic mucosal resection, histological analysis revealed that there were two lesions in the polyps, a sessile serrated lesion (SSL) and SSL with dysplasia. SSL is a high-risk lesion for colorectal cancer, but it was reported to be rare in patients with FAP, and the existence of SSL suggested another carcinogenesis pathway in patients with FAP in addition to the adenoma-carcinoma sequence. Our report may be significant not only in consideration of the pathogenesis of FAP but also useful to raise awareness of SSL for clinicians who perform endoscopic polypectomy to prevent the development of colorectal cancer in patients with FAP.
Literature
1.
go back to reference Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589–600.CrossRef Groden J, Thliveris A, Samowitz W, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991;66:589–600.CrossRef
2.
go back to reference Ishikawa H, Mutoh M, Iwama T, et al. Endoscopic management of familial adenomatous polyposis in patients refusing colectomy. Endoscopy. 2016;48:51–5.CrossRef Ishikawa H, Mutoh M, Iwama T, et al. Endoscopic management of familial adenomatous polyposis in patients refusing colectomy. Endoscopy. 2016;48:51–5.CrossRef
3.
go back to reference Matsumoto T, Iida M, Kobori Y, et al. Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut. 2002;50:402–4.CrossRef Matsumoto T, Iida M, Kobori Y, et al. Serrated adenoma in familial adenomatous polyposis: relation to germline APC gene mutation. Gut. 2002;50:402–4.CrossRef
4.
go back to reference Sawyer EJ, Cerar A, Hanby AM, et al. Molecular characteristics of serrated adenomas of the colorectum. Gut. 2002;51:200–6.CrossRef Sawyer EJ, Cerar A, Hanby AM, et al. Molecular characteristics of serrated adenomas of the colorectum. Gut. 2002;51:200–6.CrossRef
5.
go back to reference Lee EJ, Park CK, Kim JW, et al. Deletion mutation of BRAF in a serrated adenoma from a patient with familial adenomatous polyposis. APMIS. 2007;115:982–6.CrossRef Lee EJ, Park CK, Kim JW, et al. Deletion mutation of BRAF in a serrated adenoma from a patient with familial adenomatous polyposis. APMIS. 2007;115:982–6.CrossRef
6.
go back to reference Okamura T, Hashimoto T, Naka T, et al. Clinicopathologic and molecular characteristics of familial adenomatous polyposis-associated traditional serrated adenoma. Am J Surg Pathol. 2020;44:1282–9.CrossRef Okamura T, Hashimoto T, Naka T, et al. Clinicopathologic and molecular characteristics of familial adenomatous polyposis-associated traditional serrated adenoma. Am J Surg Pathol. 2020;44:1282–9.CrossRef
7.
go back to reference Su LK, Barnes CJ, Yao W, et al. Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Am J Hum Genet. 2000;67:582–90.CrossRef Su LK, Barnes CJ, Yao W, et al. Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis. Am J Hum Genet. 2000;67:582–90.CrossRef
8.
go back to reference Friedl W, Meuschel S, Caspari R, et al. Attenuated familial adenomatous polyposis due to a mutation in the 3’ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet. 1996;97:579–84.CrossRef Friedl W, Meuschel S, Caspari R, et al. Attenuated familial adenomatous polyposis due to a mutation in the 3’ part of the APC gene. A clue for understanding the function of the APC protein. Hum Genet. 1996;97:579–84.CrossRef
Metadata
Title
Importance of sessile serrated lesions in a patient with familial adenomatous polyposis
Authors
Motoki Watanabe
Hideki Ishikawa
Shingo Ishiguro
Michihiro Mutoh
Publication date
01-12-2021
Publisher
Springer Singapore
Published in
Clinical Journal of Gastroenterology / Issue 6/2021
Print ISSN: 1865-7257
Electronic ISSN: 1865-7265
DOI
https://doi.org/10.1007/s12328-021-01498-0

Other articles of this Issue 6/2021

Clinical Journal of Gastroenterology 6/2021 Go to the issue
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.