Surveillance and management of groups at increased risk of colorectal cancer.

Definitions for the Levels of Evidence (1 to 5) are given at the end of the "Major Recommendations" field.

Category 1: Individuals with a slight increase in risk of colorectal cancer (CRC) due to family history (up to 2-fold compared with the general population)

One first degree relative with CRC diagnosed over the age of 55 years

No specific surveillance recommendations are made for this group at this time given the slight increase in risk, the uncertainty regarding the age at which this additional risk is expressed, and the concern regarding the appropriateness of colonoscopy as a surveillance procedure in this group.	5
Prompt investigation of lower bowel symptoms is advised.	5
Individuals requesting information should be fully informed regarding their absolute risk of developing CRC and advised of the reasons for this recommendation.	5

Category 2: Individuals with a moderate increase in risk of CRC (3- to 6-fold compared with the general population)

One first-degree relative with CRC diagnosed under the age of 55 years
Two first-degree relatives on the same side of the family with CRC diagnosed at any age

Offer colonoscopy every 5 years from the age of 50 years (or from an age 10 years before the earliest age at which CRC was diagnosed in the family, whichever comes first).	3
Fully inform individuals in category 2 about their risk of developing CRC and the reason for this recommendation.	5
Individuals in category 2 should be informed that colonoscopy is generally a safe procedure, but it is an invasive procedure with some rare but recognised risks.	5

Category 3: Individuals with a potentially high (50%) risk of CRC

A family history of familial adenomatous polyposis, hereditary nonpolyposis colorectal cancer, or other familial CRC syndromes
One first-degree relative plus two or more first- or second-degree relatives, all on the same side of the family, with a diagnosis or CRC at any age
Two-first degree relatives, or one first-degree relative plus one or more second-degree relatives, all on the same side of the family, with a diagnosis of CRC and one such relative (1) was diagnosed with CRC under age of 55 years, (2) developed multiple bowel cancers, or (3) developed an extracolonic tumour suggestive of hereditary nonpolyposis colorectal cancer (i.e., endometrial, ovarian, stomach, small bowel, upper renal tract, pancreas, or brain)
At least one first- or second-degree family member diagnosed with CRC in association with multiple bowel polyps
A personal history or one first degree relative with CRC diagnosed under the age of 50, particularly where colorectal tumour immunohistochemistry has revealed loss of protein expression for one of the mismatch repair genes (hMLH1 or hMSH2)

Refer to:

A genetic specialist/family cancer clinic or familial bowel cancer registry for further risk assessment and possible genetic testing (for contact details see Appendix B in the original guideline document)
A bowel cancer specialist to plan appropriate surveillance and management

Recommendations: Familial Adenomatous Polyposis

Familial adenomatous polyposis (FAP) is an autosomal-dominant inherited disease characterised by the presence of multiple small adenomas (>100) throughout the colon and rectum. These polyps develop in the early-to-midteens. The median age of diagnosis for CRC in untreated affected individuals is 40 years.

Genetic testing Offer referral to a genetic service for consideration of genetic testing within the context of appropriate counseling to: Individuals with a clinical diagnosis of FAP All at-risk family members if a family-specific genetic mutation has been identified at the age when sigmoidoscopic surveillance would normally begin	5
Bowel surveillance Sigmoidoscopy 1- to 2-yearly from the age of 12 to15 years is recommended for asymptomatic individuals with an identified disease-causing FAP mutation and for all at-risk members of families with FAP if genetic testing is not available or is noninformative. Individuals found to have colorectal adenomas should be referred to a bowel cancer specialist. Increase the interval for sigmoidoscopic surveillance to 3-yearly at 35 years if previous examinations have been normal. Consider cessation at 55 years. If attenuated FAP is suspected, colonoscopy is advised. Depending on the family history this may begin as late as 18 years and continue beyond 55 years.	3
Prophylactic colectomy Prophylactic colectomy comprises total colectomy and ileorectal anastomosis or restorative proctocolectomy procedures. The choice of procedure is influenced by the rectal polyp burden and the individual's preference. Offer to individuals with an established diagnosis of FAP. The timing of surgery is individualised but is usually performed by the late teenage years. Following colectomy and ileorectal anastomosis, annual surveillance of the rectum by sigmoidoscopy with removal and destruction of polyps is advised until restorative proctectomy with ileo-anal pouch construction is performed. This surgery should be considered in all such individuals at age 45 to 50 years because of the increasing risk of rectal cancer. Proctectomy should be performed at an earlier age if polyps are not adequately controlled or CRC develops.	3
Surveillance of upper gastrointestinal tract There are no published data demonstrating a reduction in mortality from duodenal cancer as a consequence of upper gastrointestinal surveillance. Gastroduodenoscopy to detect duodenal adenomas at 1- to 3-yearly intervals from 30 to 35 years of age is commonly advised, as most advanced duodenal adenomas develop after the age of 40 years. The Spigelman Criteria may be used to guide surveillance interval. Pancreaticoduodenectomy should be considered in those with advanced but benign disease (Spigelman Stage IV).	3

Recommendations: Hereditary Nonpolyposis Colorectal Cancer

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal-dominant inherited condition characterized by the development of CRC at a mean age of 45 years, and was previously known as Lynch Syndrome.

Genetic testing Offer referral to a genetic service for consideration of genetic testing, within the context of appropriate counselling, to all at-risk members of families with HNPCC, at the age when colonoscopic surveillance would normally begin.	5
Bowel surveillance Colonoscopy is recommended 2-yearly from the age of 25 years (or from an age 5 years before the earliest age at which CRC was diagnosed in the family, whichever comes first). Consider annual colonoscopy in known mutation carriers.	3
Surgery Colectomy with ileorectal anastomosis is advised once cancer develops in known mutation carriers or at-risk members of families with HNPCC. Annual surveillance sigmoidoscopy of any residual large bowel should be performed.	5
Prophylactic surgery Prophylactic subtotal colectomy should be discussed with individuals who are known mutation carriers and have recurrent adenomas with a high degree of dysplasia or a villous growth pattern. Prophylactic colorectal surgery in known mutation carriers without any colorectal pathology (i.e., negative colonoscopies) is not indicated because 10 to 20% of such individuals will not develop CRC in their lifetime. Consider prophylactic surgery in known mutation carriers who are not willing or are unable to undergo periodic surveillance colonoscopy.	5
Extracolonic surveillance Surveillance for at-risk members of families with HNPCC or known mutation carriers takes into account the pattern of cancers occurring in particular families and the gene location of the disease-causing mutation, if known. Surveillance for endometrial cancer This is the most common extracolonic malignancy. Surveillance with annual transvaginal ultrasound (+/- endometrial aspiration biopsy) is usually advised for: Known mutation carriers At-risk members of families with HNPCC as determined by the Amsterdam Criteria if there is a family history of uterine cancer and/or genetic testing is noninformative The efficacy of these surveillance tools remains uncertain in premenopausal younger women.	5

Recommendation: Hamartomatous Polyposis Syndromes

Individuals with hamartomatous polyps of the large or small bowel, or those with a first-degree relative known to have multiple polyps alone or associated with CRC, should be referred to the appropriate bowel and genetic specialists.

Recommendation: Hyperplastic Polyposis Syndrome

Individuals identified to have hyperplastic polyps beyond the rectosigmoid junction with risk features should be referred to the appropriate bowel and genetic specialists. Risk features include:

Unusual numbers (>20)
Unusual size (>10 mm)
Location in the proximal colon
Presence of high-grade dysplasia
Coincidental adenomas
A first-degree relative with high-risk hyperplastic polyps
A first-degree relative with CRC

Recommendations: Familial Bowel Cancer Registries

There is a need for a national registry in New Zealand. Familial bowel cancer registries facilitate: The diagnosis of hereditary CRC The maintenance of a confidential family database Coordination of cancer surveillance Multidisciplinary clinical management Education for both families and medical practitioners	5
Individuals or families with hereditary CRC syndromes should be offered referral to a familial bowel cancer registry as coordination of cancer surveillance by registries in familial colorectal syndromes is associated with a reduction in cancer incidence (see Appendix B in the original guideline document).	3
A working party is advised to review guidelines for the functioning of a national registry, particularly with regard to informed consent and confidentiality of registry information.	5

Recommendations: Individuals with a Personal History of Colorectal Cancer

Follow-up after resection of CRC with curative intent is recommended as it allows practitioners to monitor treatment outcome and is consistent with the preference of individuals with CRC.	5
All such individuals should have specialist follow-up over the time period in which the majority of recurrences (local or metastatic) are most likely to occur (3-5 years). Follow-up should be appropriate to the clinical context. In deciding on intensity and duration of follow-up, age and comorbid conditions should be considered. Follow-up should occur in conjunction with, and subsequently be continued by, the individuals general practitioner.	5
Individuals free of recurrent CRC for 3 to 5 years should be entered into a colonoscopy surveillance program. Colonoscopy should be performed at 3- to 5-yearly intervals.	5
All individuals with CRC should be informed of the uncertain efficacy of follow-up with regard to survival benefit.	5

Recommendations: Individuals with a Personal History of Colorectal Adenoma*

Factor	Assessed Risk	First surveillance colonoscopy
Adenoma size >10 mm	High: continued surveillance	At 3 years - if negative subsequent colonoscopy at 3-5 years**	3
>3 adenomas	High: continued surveillance	At 3 years - if negative subsequent colonoscopy at 3-5 years**	3
Villous lesions and/or severe dysplasia	High: continued surveillance	At 3 years - if negative subsequent colonoscopy at 3-5 years**	3
Adenomas with no high-risk features and:
Significant family history of CRC No family history of CRC	High: continued surveillance Low: consider discontinuing surveillance if subsequent surveillance colonoscopy normal.	At 3 years At 5-6 years	3

*Presumes complete excision of previous adenomas

**Shorter interval may be appropriate if multiple high-risk features at index procedure

Recommendations: Individuals with a Personal History of Inflammatory Bowel Disease

Ulcerative Colitis
Initial surveillance colonoscopy After 8 to 10 years, individuals with ulcerative colitis (UC) should undergo colonoscopy with serial biopsies (as detailed below) to define disease extent, both macroscopic and microscopic. All those with significant disease extending proximal to the sigmoid colon should be enrolled in a surveillance programme.	3
Surveillance colonoscopy Colonoscopy is recommended 2-yearly for individuals with UC after 10 years' disease duration. At colonoscopy, 2 to 3 biopsies should be taken from each of 10 sites (caecum, proximal and distal ascending colon, proximal and distal transverse colon, proximal and distal descending colon, proximal and distal sigmoid colon, and rectum). Additional biopsies should be taken from any mass lesions, but not from pseudopolyps. Individuals with UC should be informed regarding: The rationale for surveillance colonoscopy and its limitations in detecting CRC The failure of studies to establish beyond doubt the value of surveillance in this situation	3
Management of surveillance-detected dysplasia If high-grade dysplasia (HGD) is present on biopsy (and confirmed on histological review), the individual should be referred for colectomy. If low-grade dysplasia (LGD) is found in the absence of significant inflammation: Shorten the surveillance interval to 1 year Refer for surgical review If LGD is found in the presence of active inflammation, it is advisable to repeat the colonoscopy after anti-inflammatory therapy. If LGD is confirmed, proceed as outlined for LGD above.	3
Crohn's Disease
All individuals with extensive colorectal Crohn's disease should undergo surveillance procedures as detailed for individuals with extensive UC.	4

Definitions:

Levels of Evidence

1
Randomised controlled trials

2
Nonrandomised controlled trials

3
Nonrandomised historical cohort studies
Case-control and other population studies

4
Case series

5
Expert (consensus) opinion

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