Gastroduodenal involvement in patients with familial adenomatous polyposis. Prospective study of the nature and evolution of polyps: evaluation of the treatment and surveillance methods applied

Cordero-Fernández, Carmen; Garzón-Benavides, Marta; Pizarro-Moreno, Ángeles; García-Lozano, Raúl; Márquez-Galán, José Luis; Ruiz, Teófilo López; Sobrino, Salvador; Bozada, Juan M.; Laguna, O. Belda

doi:10.1097/meg.0b013e3283297cf2

Cited by 33 publications

(40 citation statements)

References 29 publications

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“…Such involvement mainly affects the duodenum (66.6%). This figure is similar to the results reported in other studies on gastrointestinal involvement in patients with FAP (4,6,(22)(23)(24)(25).…”

Section: Discussionsupporting

confidence: 92%

Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included

Benavides

Moreno

Lozano

et al. 2010

Rev. esp. enferm. dig.

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Objective: To evaluate the phenotype and genotype characteristic of patients included in the Andalusian Registry for familial adenomatous polyposis, the genotype/phenotype correlation and the impact of Registry in the frequency of colorectal cancer of registered. Material and methods: A descriptive study of 77 patients with FAP belonging to 33 families, included in a centralized database visited by the physicians of the hospitals taking part in the present study, on prior signing of confidentiality letters. All genetic studies were carried out in the Immunology Service of our institution. Results: We have included in our study 77 patients of 33 families; 31 probands with a mean age of 32 years (13-51) and 46 relatives at risk with a mean age of 21.8 years (6-55). Genetic study informed in 68/77 with positive result in 92.6%. Ten probands showed colorectal cancer (CRC) at the time of diagnosis (32.2%). Only two affected relatives showed CRC at diagnosis (4.3%), a statistically significant difference (p < 0.05). Gastrointestinal involvement was observed in 30/61 (49%), desmoid tumors in 7/77 (9.1%) and congenital hypertrophy of the retinal pigment epithelium in 23/55 (65.7%). 86.7% of patients with this alteration showed mutations between codons 454 and 1019, with a statistically significant correlation ((p< 0.05). Conclusions: The registry has facilitated the genetic diagnosis for all affected families disregard their province of origin. It has also improved the screening of affected relatives and has made it possible to take preventive measures immediately, therefore diminishing the incidence of CRC at diagnosis in registered affected relatives. The correlation between congenital hypertrophy of the retinal pigment epithelium with some mutations is the only phenotypic-genotypic correlation with statistical significance.

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Section: Discussionsupporting

confidence: 92%

Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included

Benavides

Moreno

Lozano

et al. 2010

Rev. esp. enferm. dig.

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“…Transduodenal excision used to be advocated as the procedure of choice but it has a high recurrence rate. Surgical ampullectomy is an alternative for patients with ampullary polyps for whom endoscopic treatment is not safe (14). Because radical surgical Whipple procedure could be associated with signifi cant morbidity, the decision-making represents a diffi cult process during which the risk/benefi t ratio of surgical intervention should be considered.…”

Section: Discussionmentioning

confidence: 99%

Ampullary cancer in a patient with familial adenomatous polyposis – a rare case report and current status of management

Sabol¹,

Donat²,

Kajo³

et al. 2019

BLL

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Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder. Extracolonic manifestations are seen quite often. As prophylactic colectomy has become a standard care in FAP patients, the concerns over the development of associated extracolonic malignancies ha ve become more prevalent. The authors report a case of a patient with the history of subtotal colectomy because of FAP with the development of adenocarcinoma of papilla of Vater twenty-six years later. A radical procedure in form of proximal pancreaticoduodenectomy was indicated. Variable endoscopic surveillance protocols and treatment strategies have been proposed concerning the management of duodenal and periampullary lesions. In case of periampullary malignancies, the radical surgical resection offers the only chance for cure and the only option that may safeguard the long-term survival (Fig. 2, Ref. 30).

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“…It has been shown that more than half of FAP patients may harbor ampullary adenomas even in cases with normal endoscopic appearance (37). Ampullary lesions are considered to have a greater risk of carcinoma progression when compared to non-ampullary adenomas, especially those greater than 1 cm, with villous histology or moderate/severe dysplasia (15,38). This difference is the basis why the Spigelman classification may not eventually evaluate an individual's risk accurately.…”

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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Gastroduodenal involvement in patients with familial adenomatous polyposis. Prospective study of the nature and evolution of polyps: evaluation of the treatment and surveillance methods applied

Cited by 33 publications

References 29 publications

Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included

Andalusian Registry for Familial Adenomatous Polyposis: Analysis of patients included

Ampullary cancer in a patient with familial adenomatous polyposis – a rare case report and current status of management

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

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