Diagnosis of familial adenomatous polyposis

Abstract

Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestations are seen. Proctosigmoidoscopy is used for screening; when adenomas are found, the diagnostic evaluation includes colonoscopy and gastroduodenoscopy. Screening of first degree relatives should start at the age of 10 years, using proctosigmoidoscopy at regular intervals. The recent detection of a specific FAP gene at chromosome 5 and of congenital retinal pigmentations will allow an early preclinical diagnosis in the future. A centralized registration of FAP has resulted in an improved prognosis, and the establishment of international groups will contribute to increased research of this disease.

Presymptomatic diagnosis in families with adenomatous polyposis using highly polymorphic dinucleotide CA repeat markers flanking the APC gene.

“…(J Med Genet 1994;31:442-447) Familial adenomatous polyposis (FAP) is one of the most frequent (around 1:10 000) dominantly inherited predispositions to colon cancer with age dependent penetrance. [1][2][3] Typically, affected persons develop multiple polyps in the colonic epithelium during the second or third decade of life. One or more of these adenomas inevitably progress to adenocarcinoma if left untreated.…”

Rare Coincidence of Familial Adenomatous Polyposis and a Retroperitoneal Fibromyxoid Sarcoma: Report of a Case

“…Therefore, resection is recommended in symptomatic patients only. [4][5][6][7][8]10,24,27,28 The reported case presented with characteristic clinical symptoms of a retroperitoneal desmoid tumor near the former resection site obstructing the left ureter after former surgical intervention. Based on the number of findings, such as ureteral obstruction and accompanying hydronephrosis as well as displacement of the urinary bladder and narrowing of the ileal pouch, tumor resection was assessed to be necessary.…”

“…[4][5][6][7][8][9]16 Several syndromes are described, such as Gardner's syndrome (FAP, multiple osteomas, and mesenchymal tumors of skin and soft tissue) 17 and Turcot's syndrome (FAP and central nervous system tumor). 18 An association of FAP and sarcoma has been reported in five cases only:…”

“…[1][2][3] An association of FAP with extracolonic manifestations has been extensively described. [4][5][6][7][8] The severity of polyposis and extent of extracolonic manifestations depend on the APC gene mutation site. 4,9 Desmoid tumors are one of the most commonly found extracolonic manifestations, in particular, within the abdominal cavity and the retroperitoneum.…”

Reversal of Clubbing After Colectomy for Familial Adenomatous Polyposis

“…2 Among several major series, more than 40% of patients are isolated cases, of whom some may represent fresh mutations. 3 The frequency in the general population of the U.K. is one in 23,790. 4 Recently, the FAP gene was assigned to chromosome 5, most probably near 5q21-q22.…”