Familial Adenomatous Polyposis
Conditions
Keywords
Endoscopic surveillance, Endoscopic interventions, Personalised care, Gastrointestinal neoplasia
Brief summary
The purpose of this study is to determine the efficacy and safety of a personalised surveillance and intervention protocol for patients with familial adenomatous polyposis (FAP) that have undergone (procto)colectomy.
Detailed description
Familial adenomatous polyposis (FAP) is characterized by formation of up to hundreds to thousands of polyps throughout the entire colon and rectum. When left untreated, nearly all patients with FAP develop colorectal cancer at a median age of 35-45 years. To prevent colorectal cancer in patients with FAP, prophylactic colorectal surgery is performed. The preferred surgical procedures for FAP are a restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) or a subtotal colectomy with ileorectal anastomosis (IRA) or ileosigmoidal anastomosis (ISA). After both types of prophylactic colorectal surgery, subtotal colectomy with IRA/ISA or proctocolectomy with IPAA, patients will require life-long surveillance because disease progression and development of new adenomas in retained rectum, pouch or residual rectal cuff will occur. The 10-years risk of developing one or more adenomas in the rectum after IRA is 100% compared to 33% in the pouch after IPAA. The risk of developing rectal cancer after IRA was found to be 9% and 11% in two large studies with a median follow-up of 12.8 and 15 years, respectively. One study showed that the 10-years risk of developing a carcinoma in the pouch was 1%. As patients are usually operated at a young age, and nowadays have a long life-expectancy, the actual cumulative life-time risk will presumably be higher. The recently published ESGE (European Society of Gastrointestinal Endoscopy) polyposis guideline recommends a one to two yearly endoscopic surveillance interval after prophylactic colorectal surgery in FAP, both for patients that underwent IRA/ISA and IPAA, with removal of all polyps \>5mm. This recommendation is based on expert-opinion, since no studies have been reported comparing the efficacy and safety of different surveillance intervals. No advices are provided on which patients will benefit from which surveillance interval. With the proposed study, the investigators aim to provide evidence for personalized endoscopic surveillance for patients with FAP that have undergone (procto)colectomy with construction of an IRA/ISA or IPAA with the goal to prevent development of advanced neoplasia (AN) by endoscopically removing lesions before they progress to AN.
Interventions
This study uses one arm. Participants will undergo endoscopic surveillance with intervals between 6 months and 2 years, depending on severity of polyposis and performed endoscopic interventions.
Sponsors
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Leiden University Medical Center
The Netherlands Cancer Institute
St Mark's Hospital Foundation
Hospital Clinic of Barcelona
Maria Sklodowska-Curie National Research Institute of Oncology
Hospital General Universitario de Alicante
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Radboud University Medical Center
Hvidovre University Hospital
M.D. Anderson Cancer Center
University Hospital, Bonn
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosis of FAP, at least one of following: genetic diagnosis (proven APC germline mutation) and/or clinical diagnosis (\>100 colorectal adenomas in combination with a positive family history of FAP) * Have undergone prophylactic (procto)colectomy with IRA/ISA or IPAA * Age 18 years or older
Exclusion criteria
* Not able to remove all polyps with an indication for removal during (multiple) clearing endoscopies * Cancer at baseline endoscopy * Need for surgery
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Advanced neoplasia | Up to 5 years | Incidence of advanced neoplasia (advanced adenoma and cancer). An advanced adenoma is defined as size ≥ 10mm and/or high-grade dysplasia. This surveillance and intervention protocol will be considered successful when the incidence of advanced neoplasia is less than 5% after a study period of 5 years. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Characteristics polyps | Up to 5 years | Incidence and characteristics of polyps detected/removed in patients with IRA/ISA and IPAA |
| Radicality of different endoscopic intervention techniques | Up to 5 years | Rate of radical endoscopic interventions |
| Feasibility endoscopic interventions | Up to 5 years | Incidence of lesions not amenable to endoscopic removal |
| Surgical interventions | Up to 5 years | Incidence of surgical interventions |
| Surveillance burden | Up to 5 years | Surveillance burden (number of endoscopies per patient) |
| Complications | Up to 5 years | Incidence of endoscopy related complications |
Countries
Netherlands, United States
Outcome results
None listed