Setting
Parameters
Screening
Absence of symptoms
Defined risk categories (Table 10.2)
Establishing the time for the first screening (Table 10.3)
Quality assessment parameters for each test in general and in individual patient (Table 10.4)
Establishing the appropriate repeat intervals depending on (Table 10.5):
• Basic risk profile
• Quality of the test performance
• Individual findings
Diagnostic workup
Symptom characterization
Age
Presence of age-independent risk factors
Defining the appropriate role of other tests beyond colonoscopy
Risk Categories
Approximately, 65–75% of the population are considered to be low or average risk, i.e., there are no identifiable risk factors including, a lack of first-degree relatives with CRC or advanced adenomata (Table 10.2). Another 20–30% are at an increased risk of CRC, based on having one first-degree relative with an age of less than 60 years or two or more first-degree relatives of any age with CRC or advanced polyps, or a respective personal history; there are also a number of ethnicities who have been associated with an increased risk of CRC, including African-Americans and Ashkenazi Jews [4]. Additionally, 6–8% of the population are linked to a high-risk constellation for developing CRC based on the presence of genetic mutations/syndromes such as familial adenomatous polyposis (FAP) or its attenuated form (AFAP), Lynch syndrome (HNPCC), or MUTYH-associated polyposis (MAP) , or based on the presence of chronic inflammatory bowel disease (IBD) [12].
Table 10.2
Risk categories for the development of colorectal cancer
Category | Fraction of population (%) | Lifetime risk of CRC | Details |
---|---|---|---|
Average risk | 65–75 | 4.5% | • No personal risk factors |
• Negative family history | |||
Increased risk | 20–30 | 10–20% (?) | • CRC or advanced adenoma in one first-degree relative with age ≤ 60 years or ≥ two first-degree relatives of any ages. |
• Personal history of curative resection of CRC. | |||
• Personal history of large adenomatous polyp (> 1 cm) or multiple colorectal polyps of any size. | |||
• Personal history of sessile serrated adenomas (proximal to sigmoid colon). | |||
• African-American ethnicity, Ashkenazi Jews | |||
High risk | 6–8 | Nearly 100% by age 45 | • FAP |
70% | • Attenuated FAP (AFAP) | ||
60–80% | • Lynch syndrome (HNPCC) | ||
Nearly 100% by age 65 | • MUTYH-associated polyposis (MAP) | ||
10–20% | • IBD |
Time for the First Screening
In the asymptomatic average-risk individual , it is recommended to start screening colonoscopy at age 50, and if negative to repeat it every 10 years (Table 10.3). Data from larger cohort studies suggest that the first colonoscopy was associated with the overall greatest benefit in risk reduction, and that an earlier start of general screening (e.g., at age 40) was of only limited value.
Table 10.3
Indications for screening based on risk constellation
Start | Interval to subsequent colonoscopy (if no pathological findings) | |
---|---|---|
Average risk | ||
• No personal/family risk factors | Age 50 years | Every 10 years |
Increased risk | ||
• African-American ethnicity, Ashkenazi Jews, and other subgroups | Age 45 years | (5-) 10 |
• Personal history of CRC | Clearing colonoscopy within 6 months of surgical resection | 1/3/5 years |
• Personal history of large adenomatous polyp (>1 cm), multiple colorectal polyps of any size, or sessile serrated adenomas (proximal to sigmoid colon). | – | 1/3/5 years |
• Family history of CRC in FDR <60 years | Age 40 years or 10 years before the youngest affected immediate family member | Every 5 years |
• Family history of CRC in any 2 or more family member(s) age <60 years | Age 40 years or 10 years before the youngest affected immediate family member | Every 5 years |
• Family history of CRC in FDR(s) >60 years | Age 50 years | Every 10 years |
High risk | ||
• FAP | Age 14 | Annual with flexible sigmoidoscopy or colonoscopy until proctocolectomy @age 16–25 |
• FAP, status post IPAA/Kock pouch | 1 year after surgery | Annual pouchoscopy and monitoring of ATZ |
• Lynch syndrome / HNPCC | Age 20–25 years, or 10 years before youngest affected family member | Every 1–2 years |
• Chronic IBD (UC, Crohn) | 7–8 years post onset | Every 1–2 years |
• IBD, status post IPAA/Kock pouch | 1 year after surgery | Every 1–3 years |
However, it has been postulated by some of the professional societies to start routine screening earlier in some subgroups and ethnicities that were associated with an overall increased risk or have shown no or an insufficient decrease of CRC incidence rates over the past decades. Among these groups are African-Americans who are recommended to start screening at the age of 45 years [4]. Moreover, if there is a positive family history involving, in particular, first-degree relatives, and no known genetic mutation is identifiable, the first screening colonoscopy should be recommended to start at age of 40 or 10–15 years before the age at diagnosis of the youngest family member with CRC or advanced adenoma (whichever comes first).
Recommendations for high-risk categories include not only a much earlier start, but due to the accelerated adenoma-carcinoma sequence, much shorter intervals, more frequent repeat exams, and potentially screening for extra-colonic pathology. The specifics are also outlined in Table 10.3 and depend on the nature of the risk (e.g., genetic syndrome versus IBD) [12]. Preferably, the gene carrier status in families with known genetic syndromes (FAP , Lynch, MAP) should be established by genetic testing rather than “screening” for the presence of polyps. Patients with established clinical or genetic diagnosis of FAP have traditionally been recommended to start screening at age of 10–12 years with annual flexible sigmoidoscopy. In reality however, there is no nonsurgical, pharmacological, or endoscopic intervention that could obviate the necessity for a prophylactic surgical resection (typically proctocolectomy ) which should be planned for an appropriate time between ages 16 and 25. Particularly with wide availability of genetic testing, it is therefore our recommendation that these patients wait with “screening” until they reach the age of 14, as those 2–4 additional years allow these young patient to mature and get an opportunity to understand and participate in the process of screening rather than being traumatized. The risk of this delay is negligible as a proctocolectomy is almost never needed before the age of 14. The purpose of flexible sigmoidoscopy or colonoscopy in FAP is less to prevent CRC but to get a relative growth profile and establish the right timing for the inevitable surgery.
In contrast, Lynch syndrome (HNPCC) has a more variable phenotype . Patients with a clinical or genetic confirmation of a carrier status are recommended to begin colonoscopy screening at age 20–25 years or 10 years before the youngest family member with CRC or advanced polyps and to subsequently continue every 1 or 2 years.
Quality Assessment Parameters
The efficacy of colonoscopy as a screening tool has been linked to a number of quality parameters that involve (a) the endoscopist, (b) the patient and the bowel preparation, and (c) potentially some technological aspects (see Table 10.4) [13, 14]. The clinically most relevant though unpractical parameter would be the detection rate of interval cancers. Hence, the most important surrogate parameter appears to be the overall adenoma detection rate. Other similar parameters such as polyp detection rate (which includes hyperplastic polyps), the overall cecal intubation rate with photo documentation, and the average withdrawal time (typically greater than 6 min) have been used as quality benchmarks even though strong supportive evidence is lacking. Unquestionably, visibility is highly dependent on the completeness of the bowel cleansing. An adequate bowel preparation is critical for the accuracy and cost-effectiveness of colorectal cancer screening while inadequate cleansing should trigger an earlier reexamination [15].
Table 10.4
Colonoscopy quality parameters
Accepted quality parameters | Benchmark |
---|---|
Withdrawal time (WT) | ≥6 min |
Cecal intubation rate (with photo documentation) | ≥95% |
Adenoma detection rate (ADR) in average risk screening colonoscopy | ≥ 25% in men, ≥ 15% in women |
Alternate or unquantified parameters | Detail |
Polyp detection rate (PDR), including nonadenomatous polyps (hyperplastic polyps) | 35% |
Detection rate of proximal sessile serrated adenomata/polyps (SSA/SSP) | >4.5% |
Miss rate | <6–12% |
Quality of bowel cleansing | Scored by various instruments: (e.g., Boston bowel prep scale 0–9, based on sum of assessments in 3 segments, 0=unprepped, 3=perfect) |
Incidence of interval cancer within 3–5 years | <2–9% |
Follow-up Surveillance and Repeat Intervals
After a previous polypectomy or colon resection for CRC, the aim of repeat colonoscopies is to detect and remove adenomata that were potentially missed on the initial exam as well as metachronous new adenomata with advanced pathologic features [16]. Defining the exact length of recommended interval depends on the number of factors to not only include the previously mentioned overall risk categories but also the individual findings (Table 10.5). In particular, the number of detected and removed adenomatous or serrated polyps, the completeness of the previous removal, the size of lesions, and the presence or absences of unfavorable features (e.g., high-grade dysplasia) have to be taken into account. Furthermore, the time interval may need to be shortened depending on the quality of the previous examination, e.g., if it was complete or the bowel cleansing and visibility were inadequate.
Table 10.5
Impact of pathological findings on subsequent surveillance intervals
Pertinent findings on index colonoscopy | Interval to subsequent colonoscopy |
---|---|
Small hyperplasic polyps in distal rectosigmoid | 10 years |
1–2 small tubular adenomas <1 cm with low-grade dysplasia | 5–10 years |
3–10 adenomas, or 1 adenoma >1 cm, or any adenoma with villous features/high-grade dysplasia | 3 years |
More than 10 adenomas completely removed in a single examination | 1–2 years |
Sessile adenomata removed in piecemeal | <6 months |
Polyps in Lynch syndrome | 1–2 years |
If there were only a limited number of small adenomata (tubular adenoma ), a 5- to even 10-year interval is sufficient. A shorter interval of 3 years would be recommended if there were more advanced or multiple polyps (≥ 3), including sessile serrated adenomata proximal to sigmoid colon. In patients who were found to have numerous adenomata (including serrated adenoma), a malignant adenomatous polyp with high-grade dysplasia or focal adenocarcinoma (cancerous polyp), large sessile polyps including sessile serrated adenomata, incomplete removal of polyps, or whose colonoscopy was incomplete or otherwise unsatisfactory, an interval of a few months may have to be recommended (unless a surgical resection is carried out). No adjustment to the screening schedule of 10 years is needed if there were only hyperplastic polyps with typically distal distribution in the rectum and sigmoid colon. Patients with proximal serrated adenomata/polyps or with hyperplastic polyposis syndrome are exceptions from that.