Upper gastrointestinal neoplasia in familial adenomatous polyposis: prevalence, endoscopic features and management

Abstract

Background: To evaluate the prevalence of upper gastrointestinal (GI) polyps in familial adenomatous polyposis (FAP), and to discuss current therapeutic recommendations. Methods: Clinical, endoscopic, histological and treatment data were retrieved from charts of 102 patients . Duodenal adenomatosis was classified according to Spigelman stages.Results: this series comprised 59 women (57.8%) and 43 men (42.1%) with a median age of 32.3 years.Patients underwent 184 endoscopic procedures, the first at a median age of 35.9 years (range, 13-75 years).Fundic gastric polyps (n=31; 30.4%) prevailed in the stomach. While only 5 adenomas were found in the stomach, 33 patients (32.4%) presented duodenal ones. Advanced lesions (n=13; 12.7%) were detected in the stomach (n=2) and duodenum (n=11). During follow-up, Spigelman stages improved in 6 (12.2%) patients, remained unchanged in 25 (51.0%) and worsened in 18 (36.7%). Carcinomas were diagnosed in the stomach and duodenum (4 lesions each, 3.9%), at median ages of 50.2 and 55.0 years, respectively. Advanced lesions and carcinomas were managed through local or surgical resections. Severe complications occurred in only 2 patients (one death). Enteroscopy in 21 patients revealed jejunal adenomas in 12, 11 of whom also presented duodenal adenomas. Conclusions: There is a high prevalence of upper GI adenomas and cancer in FAP. There were diagnosed fundic gastric polyps (30.4%), duodenal (32.4%) and jejunal adenomas (11.8%), respectively. One third of duodenal polyps progressed slowly throughout the study. The rates of advanced gastroduodenal lesions (12.7%) and cancer (7.8%) raise the need for continuous surveillance during follow-up.

Novel Endoscopic Polypectomy Surveillance Technique for Fundic Gland Polyps in Familial Adenomatous Polyposis Can Improve Early Detection of Dysplasia and Gastric Cancer

“…Furthermore, the conventional method of tissue sampling with a pinch biopsy forceps is both too labor-intensive and limited in obtaining representative specimens for surveillance purposes. Recent studies describe advanced GC leading to devastatingly poor outcomes despite upper endoscopic surveillance which may, in part, be attributable to a high miss rate and sampling error (12,(18)(19)(20). EPS was developed to address these issues because it is a rapid sampling method using a cold snare to resect at least 20 FGPs per session.…”

“…However, recently there have been a rising number of cases from registries and case reports of GC in Western FAP patients (18)(19)(20)(21). A recent case series in 2019 showed a GC incidence of 3.9%, which was the same as its reported incidence of duodenal cancer (12). Importantly, Walton et al found that most patients with FAP (6/8) who were diagnosed with GC presented with advanced disease (T3/T4) with a dismal survival median of 13.5 months despite undergoing surveillance esophagogastroduodenoscopies (EGDs) (19).…”

“…FAP-associated FGPs are typically found in large numbers and are a common finding on endoscopy, with reports ranging from 20% to 84% of patients (12,21,23). Indeed, patients with FAP have more lowgrade and high-grade dysplastic FGPs than nonsyndromic patients, with previous studies detecting dysplasia in up to 44% of patients with FGPs (12,(23)(24)(25). Oftentimes, patients with FAP will have innumerable FGPs with some that coalesce into large polypoid mounds, and obtaining adequate tissue using conventional forceps biopsy can be labor-intensive and challenging.…”

Endoscopic Surveillance and Treatment of Upper GI Tract Lesions in Patients with Familial Adenomatous Polyposis—A New Perspective on an Old Disease

“…Adenomas localized in the antrum of the stomach should be removed with endoscopic submucosal dissection (ESD) or endoscopic mucosal resection (EMR) techniques when a high degree of suspicion is present during EGD evaluation [ 12 ]. Endoscopists performing EGD in FAP patients should have a high degree of suspicion for gastric adenomas, taking frequent biopsies.…”

Finding the needle in a haystack: approach to detection of high-risk gastric lesions in familial adenomatous polyposis

“…6 Recent data from cohorts of patients with FAP from the United States and Brazil demonstrate that gastric cancer is on the rise, occurs in up to 5% of patients, and now is a leading cause of cancer death in some centers. [7][8][9] Proximal gastric polyposis occurs nearly universally in patients with FAP, with the most common lesion being fundic gland polyps (FGPs) with or without low-grade foveolar dysplasia, whereas less common gastric lesions include FGPs with high-grade dysplasia, gastric adenomas, pyloric gland adenomas, and hyperplastic polyps, [10][11][12][13] with 10% of gastric polyps historically reported to be gastric adenomas. 14 All gastric cancers that occurred in our patients with FAP were solitary and in the proximal stomach amid proximal gastric polyposis.…”