Upper GI involvement in children with familial adenomatous polyposis syndrome: single-center experience and meta-analysis of the literature

Sanchez, Luz Helena Gutierrez; Alsawas, Mouaz; Stephens, Michael C.; Murad, M. Hassan; Absah, Imad

doi:10.1016/j.gie.2017.10.043

Cited by 13 publications

(13 citation statements)

References 30 publications

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“…One report notes hundreds of polyps were found on colonoscopy of a 10-yr-old patient lacking a family history of FAP following 8 years of recurrent hematochezia, precipitating iron-deficiency anemia (Auricchio et al 2005). Additionally, a recent report (Gutierrez Sanchez et al 2018) details that esophagogastroduodenoscopy reveals clinically relevant lesions earlier than previously predicted in children with FAP, suggesting that earlier screening may be indicated. However, guidelines for the commencement of colonoscopy monitoring for children with FAP are not provided for patients presenting at such a young age (National Comprehensive Cancer Network 2018).…”

Section: Discussionmentioning

confidence: 93%

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Kiessling

Dowling²,

Huang³

et al. 2019

Cold Spring Harb Mol Case Stud

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Gardner syndrome describes a variant phenotype of familial adenomatous polyposis (FAP), primarily characterized by extracolonic lesions including osteomas, dental abnormalities, epidermal cysts, and soft tissue tumors. We describe a 2-yr-old boy presenting with a 2-cm soft tissue mass of the forehead. Pathologic evaluation revealed a nuchal-type/Gardner-associated fibroma. Sequencing of the APC gene revealed a pathologic variant c.4666dupA. Parental sequencing of both blood and buccal tissue supported the de novo occurrence of this pathologic variant. Further imaging revealed a number of additional lesions including a large lumbar paraspinal desmoid, a 1-cm palpable lesion posterior to the left knee, firm lesions on bilateral heels, and multiple subdermal lesions. Colonoscopy was negative. This case illustrates a genetic variant of Gardner syndrome resulting in an aggressive early childhood phenotype and highlights the need for an individualized approach to treatment.

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Section: Discussionmentioning

confidence: 93%

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Kiessling

Dowling²,

Huang³

et al. 2019

Cold Spring Harb Mol Case Stud

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“…The data on pediatric gastric polyposis and the risk of malignancy are currently lacking. Gutierrez Sanchez et al reported duodenal adenomas with low-grade dysplasia in 52% of pediatric patients with FAP who underwent EGD for screening purposes in a cohort of 69 patients ( 7 ). After combining their results into a systematic review with other upper gastrointestinal findings in pediatric FAP patients, a duodenal adenoma detection rate of 42% was reported.…”

Section: Discussionmentioning

confidence: 99%

“…However, recent reports have shown a concerning increased incidence of gastric cancer in Western FAP patients with certain endoscopic criteria, with one Japanese study of 80 FAP patients reporting a 28% yield of gastric neoplasm after upper endoscopy ( 5 , 6 ). While data on pediatric upper gastrointestinal polyps and malignancy are less robust, studies in recent years have also reported an increased detection of gastric and duodenal polyps in this population as high as 52% ( 7 ).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Gastroduodenal Polyps in Children With Familial Adenomatous Polyposis

Stone

Bernstein

Singh

et al. 2020

Journal of the Canadian Association of Gastroenterology

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Objective To assess the prevalence of upper gastrointestinal adenomatous polyps in a cohort of pediatric familial adenomatous polyposis (FAP) patients to determine if early screening is warranted. Study Design All 11 pediatric FAP patients diagnosed in Manitoba between January 2012 and December 2019 were recruited. Patient records were examined and data on age of diagnosis, gene mutation, age of first screening endoscopy, number of endoscopies, number of gastric and colonic polyps, associated pathology, medications, symptoms and FAP-related surgeries were extracted and descriptive statistics reported. Results A total of 11 children were diagnosed with FAP over the study period with a mean age at diagnosis of 6.3 ± 3.2 years with 72.3% males and median follow-up of 4.8 years. The mean age at first gastroscopy was 10.9 ± 2.9 years and 10.8 ± 3.0 years at colonoscopy. Eight patients (72%) had upper gastrointestinal polyps, with adenomatous changes seen in seven of them on pathology. No patients had invasive carcinoma or high-grade dysplasia. All patients developed tubular adenomas on colorectal polyp pathology. Four (36%) patients underwent surgical colectomy. Conclusions Early-onset upper gastrointestinal adenomatous polyps in a pediatric FAP are common. Our study provides further data to support consideration of further, large-scale research into the benefit of early endoscopic screening for upper gastrointestinal malignancy in FAP patients.

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“…In most instances, these examples were explicit about their rationale for incorporating unpublished data, primarily because the published data was sparse (i.e., to increase certainty of findings by addressing strength of evidence), and/ or to determine whether the published data were applicable to health system populations (i.e., to increase the certainty of findings by addressing the applicability of evidence). [6][7][8][9][10][11][12][13][14][15][16][17][18][19] We identified several examples from the Mayo Clinic that illustrate different reasons for combining unpublished local with published data. In two such instances, published data for outcomes on uncommon procedures (e.g., total pancreatectomy, endovascular treatment carotid artery bifurcation aneurysms) were sparse, and adding unpublished local data increased the sample size and improved precision.…”

Section: Examples Of Using Health System Data Before During or After Conducting A Systematic Reviewmentioning

confidence: 99%

A Narrative Review and Proposed Framework for Using Health System Data with Systematic Reviews to Support Decision-making

et al. 2020

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Upper GI involvement in children with familial adenomatous polyposis syndrome: single-center experience and meta-analysis of the literature

Cited by 13 publications

References 30 publications

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Prevalence of Gastroduodenal Polyps in Children With Familial Adenomatous Polyposis

A Narrative Review and Proposed Framework for Using Health System Data with Systematic Reviews to Support Decision-making

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