Surveillance of Duodenal Adenomas in Familial Adenomatous Polyposis Reveals High Cumulative Risk of Advanced Disease

Saurin, Jean‐Christophe; Gutknecht, Christian; Napoléon, Bertrand; Chavaillon, An Nick; Écochard, René; Scoazec, Jean‐Yves; Ponchon, Thierry; Chayvialle, Jean‐Alain

doi:10.1200/jco.2004.06.028

Cited by 134 publications

(96 citation statements)

References 23 publications

(34 reference statements)

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“…Insgesamt scheint das Wachstumsverhalten der Duodenaladenome langsamer als das von kolorektalen Adenomen zu sein [310,311] und hängt mehr vom zunehmenden Alter (> 40 Jahre zunehmend) als vom initialen Stadium ab [312]. Der Mutationsort (Codon 279 -1309) korreliert mit dem Schweregrad der Polyposis im Duodenum, aber wohl nicht mit der Wahrscheinlichkeit, dass sich hochgradige Dysplasien entwickeln [313,314]. Das Lebenszeitrisiko für ein Duodenalkarzinom beträgt für Patienten mit FAP zwischen 3 und 4 % [315,316] und ist somit bis zu 300-fach höher als in der Normalbevölkerung [317].…”

Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

136

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Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

136

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“…Biopsies of approximately 3 mm of duodenal polyps were taken during upper GI surveillance endoscopy. Spigelman stage was calculated using the method described by Saurin and colleagues (26). A blood sample was taken for automated DNA extraction.…”

Section: Patients and Samplesmentioning

confidence: 99%

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis

Thomas

Hurley

Meuser

et al. 2017

Clinical Cancer Research

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Purpose: Duodenal polyposis and cancer are important causes of morbidity and mortality in familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). This study aimed to comprehensively characterize somatic genetic changes in FAP and MAP duodenal adenomas to better understand duodenal tumorigenesis in these disorders.Experimental Design: Sixty-nine adenomas were biopsied during endoscopy in 16 FAP and 10 MAP patients with duodenal polyposis. Ten FAP and 10 MAP adenomas and matched blood DNA samples were exome sequenced, 42 further adenomas underwent targeted sequencing, and 47 were studied by array comparative genomic hybridization. Findings in FAP and MAP duodenal adenomas were compared with each other and to the reported mutational landscape in FAP and MAP colorectal adenomas.Results: MAP duodenal adenomas had significantly more protein-changing somatic mutations (P ¼ 0.018), truncating mutations (P ¼ 0.006), and copy number variants (P ¼ 0.005) than FAP duodenal adenomas, even though MAP patients had lower Spigelman stage duodenal polyposis. Fifteen genes were significantly recurrently mutated. Targeted sequencing of APC, KRAS, PTCHD2, and PLCL1 identified further mutations in each of these genes in additional duodenal adenomas. In contrast to MAP and FAP colorectal adenomas, neither exome nor targeted sequencing identified WTX mutations (P ¼ 0.0017).Conclusions: The mutational landscapes in FAP and MAP duodenal adenomas overlapped with, but had significant differences to those reported in colorectal adenomas. The significantly higher burden of somatic mutations in MAP than FAP duodenal adenomas despite lower Spigelman stage disease could increase cancer risk in the context of apparently less severe benign disease.

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“…This estimative clearly demonstrates that the malignant risk of duodenal adenomas is much lower when compared to colonic ones (11,25,26).…”

Section: Discussionmentioning

confidence: 68%

“…It has been demonstrated that duodenal cancer risk increases with age, time after FAP diagnosis and with progressive adenoma stage (26,30,31).…”

Section: Discussionmentioning

confidence: 99%

Advanced duodenal neoplasia and carcinoma in familial adenomatous polyposis: outcomes of surgical management

Campos

Bustamante-Lopez

Kanno

et al. 2017

J. Gastrointest. Oncol.

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Background: In addition to the presence of neoplasia in the colon and rectum, patients with familial adenomatous polyposis (FAP) may develop numerous polyps and carcinoma within the upper gastrointestinal tract. Methods:The aim of the present paper was to review the incidence advanced duodenal polyposis or cancer and their surgical outcomes. A retrospective review of patients' records from our department was performed. respectively. Duodenal carcinomas occurred later (55.8 years) when compared to advanced adenomatosis (45.3 years). Three patients were diagnosed due to symptoms, while the others were detected under endoscopic surveillance. Age interval between FAP treatment and duodenal neoplasia diagnosis was 15.3 years . All but one patient underwent duodenopancreatectomy (DP). Two from the 7 patients undergoing DP died, one from pulmonary embolism 30 days after surgery and the other from recurrent T4N0 duodenal tumor. Thus, major operative morbidity and mortality were 12.5%. Conclusions:In this single-center Brazilian series of FAP patients: (I) advanced duodenal neoplasia or cancer requiring surgery occurred in 5.5% of patients; (II) when reaching the fifth decade of life, patients should be carefully evaluated to diagnose and treat early lesions; (III) in spite of the technical complexity of DP, operative morbidity is acceptable in experienced hands; and (IV) continuous surveillance is necessary during follow-up.

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Surveillance of Duodenal Adenomas in Familial Adenomatous Polyposis Reveals High Cumulative Risk of Advanced Disease

Cited by 134 publications

References 23 publications

S3-Leitlinie – Kolorektales Karzinom

S3-Leitlinie – Kolorektales Karzinom

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis

Advanced duodenal neoplasia and carcinoma in familial adenomatous polyposis: outcomes of surgical management

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