Uses of a familial adenomatous polyposis registry

Abstract

Objectives To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register.Design The establishment and descriptive analysis of the prospective database of the FAP registry.Setting University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka.Patients Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk.Interventions The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up.Results Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age -32 years) and 27 symptomatic (median age -34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees.Conclusions A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.

Hepatoblastoma in patients with molecularly proven familial adenomatous polyposis: Clinical characteristics and rationale for surveillance screening

“…Overall 109 children were identified with hepatoblastoma and FAP, regardless of whether or not genetic testing was performed (Table , Supplementary Table S1) . Of 90 patients with gender data reported, 65 were males (2.6:1 male:female).…”

Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome

“…Data from an Australian hospital‐based FAP registry showed a reduction in CRC incidence from 75 to 6 per cent with screening, and a study from Hong Kong demonstrated a reduction from 61 to 10 per cent. Smaller studies from Singapore and Sri Lanka have shown similar trends, although methodological quality was poorer.…”

“…Thirty studies compared CRC incidence and/or mortality in screened and symptomatic groups in FAP including 8016 individuals ( Table S1 , supporting information).…”

“…Odds ratio Screened Symptomatic Favours no screening 10 500 1 8 of 68 Alm 19 Bussey 9 Utsonomiya and Iwama 20 Järvinen et al 21 Gebert et al 22 Bülow 23 Berk et al 24 Macrae et al 25 Vasen et al 26 Rhodes et al 27 Campbell et al 28 Penna et al 30 Järvinen 29 Goh and Wong 31 Morton et al 32 Bertario et al 34 Bülow et al 35 Goldberg et al 36 De Pietri et al 37 Björk et al 38 Heiskanen et al 40 Ho et al 41 Bülow 12 Garzón-Benavides et al 43 Mallinson et al 14 Dalpatadu et al 44 Gibbons et al 45 11 of 117 38 Funnel plot of studies comparing colorectal cancer incidence by mode of presentation of familial adenomatous polyposis (screened versus symptomatic groups). There was no evidence of significant publication bias reduced CRC incidence from 33.6 to 5.1 per cent and prolonged median survival by 4 years.…”

Barriers to thyroid cancer screening with ultrasound in patients with familial adenomatous polyposis

“…The Collaborative Group of the Americas on Inherited Colorectal Cancer was established in 1995 and developed registries for patients with inherited colorectal cancer disorders, including FAP, at 14 cancer centers in the United States and Canada that help in selection of appropriate screening tests/therapy and managing the multidisciplinary care of the disorder. Studies have shown that FAP patients enrolled in registries for inherited colorectal cancer have improved outcomes compared to those treated in centers without such registries and can improve the prognosis of FAP due to earlier detection . Therefore, we argue that patients enrolled in FAP registries have better access to screening TUS than that at institutions without registries.…”