Endoscopic Screening and Surveillance: Indications and Standards

Fig. 1.1

Cumulative incidence of CRC by age in different risk groups: FDR, first degree relative; HNPCC, hereditary non-polyposis coli cancer; FAP, familial adenomatous polyposis coli (Modified acc. to Winawer et al. [23]) (Permission granted by AGA Institute, W.B. Saunders Comp)

Table 1.1

Individuals with increased risk for CRC

Condition	Reference
Family history (FH) of colon adenoma or carcinoma	[25, 30]
Hereditary colorectal carcinomas (rapid progression adenoma → carcinoma)
HNPCC, autosomal dominant	[24, 26]
FAP, autosomal dominant	[10, 24]
MAP (MUTYH-associated adenomatous polyposis), autosomal recessive	[10, 24]
Peutz-Jeghers syndrome (PJS)	[26, 27]
Familial juvenile (hamartomatous) polyposis (FJP)	[26]
Chronic inflammatory bowel disease (UC, Crohn’s colitis)	[28, 29]
Surveillance after polypectomy or surgery for CRC	See [10, 24]

1.2.2.1 Screening with Positive Family History

The lifetime risk for colon cancer is about 1 % in individuals without increased risk factors and 2 % in individuals with first-degree relatives (FDRs) with colonic adenoma or carcinoma at age <60 years (i.e., positive family history FH), and it is 3.5–4 % when one FDR had colon cancer at age <50 years or more than 1 FDR had colon cancer or when two or more second-degree relatives (SDR) had colon cancer [25] (Fig. 1.1). The risk for colon cancer is only marginally increased (~1.5–1.8-fold) when one FDR at age >60 years or one SDR had colon adenoma or cancer [25]. In cases of positive FH and more so in cases with strong hereditary risk for CRC (e.g., positive Amsterdam criteria, Table 1.2) the risk rises earlier in life and becomes very high in the cancer syndromes, e.g., ~60 % in HNPCC and 80–90 % in FAP at age of 60 years (Fig. 1.1) [8, 13, 23]. Recommendations for surveillance are listed in Table 1.3.

Table 1.2

Clinical criteria for microsatellite instability (MSI) genetic testing (for HNPCC) [13]

Amsterdam criteria II	Revised Bethesda guidelines
At least 3 relatives with CRC or a Lynch syndrome-associated cancer^a occurring in the following combinations:	One CRC diagnosed at age <50 years
One is first-degree relative to others	MSI-H-positive CRC at age <60 years
In at least two successive generations	Syn-/metachronous Lynch syndrome-associated tumors^a
At least one diagnosed at age <50 years	1 CRC and 1 FDR with Lynch syndrome-associated tumor^a, 1 at age < 50 years
FAP excluded in the CRC cases	1 CRC with two or more FDR or SDR with a Lynch syndrome-associated tumor^a
Tumors verified by histopathology

^aThese include colorectal, endometrial, stomach, ovarian, pancreas, ureter, renal pelvis, biliary tract, and brain tumors, sebaceous gland adenomas, keratoacanthomas, and carcinoma of the small bowel

Table 1.3

Recommended screening colonoscopy for high risk of CRC [10, 24, 26, 31]

Risk factors	Screening colonoscopies
Risk factors	Age at begin	Intervals (years)
Positive FH only
1. One SDR or TDR (cousin) with CRC	50 years	10
2. One FDR with CRC/adenoma >60 years or >two SDR with CRC	40 years	10
One FDR with CRC/adenoma <60 years	40 years or 10 years before manifestation in FDR	5
Monogenic hereditary syndromes
3. FAP (classical form)	12 years	1 or 2
Attenuated FAP (10–100 adenomas)	25 years, or 10 years before CRC in FDR	1 or 2
4. HNPCC	20 or 25 years, or 10 years before earliest CRC in FDR	1 or 2
5. Peutz-Jeghers syndrome (PJS)	18 years	2
6. Familial juvenile polyposis (>10 polyps)	12 years	3–5
Chronic inflammation
7. Ulcerative colitis, Crohn’s colitis	Pan-/colitis for 8–10 years	2 (−1)

See Chap. 11 for surveillance of ulcerative colitis and Crohn’s colitis

1.2.2.2 Genetic Testing

Genetic testing for specific mutations (APC gene, mismatch repair (MMR) genes) is recommended for:

FAP of the colon (→ sequencing of APC gene)
Presence of criteria compatible with HNPCC (compare Table 1.2)

Cases with very-high-risk FH require genetic testing of the carcinoma (if MSI positive) of the index patient first by immunohistochemistry for MMR proteins, followed by sequencing the gene of an unexpressed MMR protein to detect the specific MMR gene mutation. Consecutively, family members at risk must be screened for this MMR gene mutation by a center for genetic studies [10]. Carriers of the mutation need surveillance for CRC and related cancers.

Note

Up to 20 % of FAP cases have negative FH (probably new germline FAP mutations or biallelic autosomal recessive MUTYH gene mutations). Likely hereditary cancer syndromes must be evaluated in collaboration with a center for genetic diseases. Sub-/total colectomy with ileorectal anastomosis or even ileoanal pouch may be indicated for FAP, for HNPCC, and rarely for ulcerative colitis [10, 13, 24].

1.3 Gastric Cancer

Gastric cancer (GC) is the second leading cause of cancer-related death worldwide, and the 4th in the USA and Western Europe. The incidence rates for gastric cancer (GC) have decreased by 75–85 % during the past 60 years to 3–5/100,000/year in the USA and Western Europe but remain higher in Japan (fivefold), China, Chile, and Eastern Europe [1, 16–18]. Radiographic and endoscopic screening has decreased GC-specific mortality in Japan [18, 19, 32]. In Western countries, opportunistic screening and surveillance endoscopy only is common.

1.3.1 Increased Risk for Gastric Cancer

The two main types are “intestinal type,” forming gland-like tubular structures, and “diffuse type” lacking cell cohesion and infiltrating the wall by spreading of single cells. The intestinal type is easier to detect at endoscopy and spreads slower. The following disorders are considered for surveillance gastroscopy (see Table 1.4). The precursor lesions for intestinal-type GC are severe chronic atrophic gastritis (autoimmune type A or Helicobacter pylori-induced type B) with intestinal metaplasia (IM) or biliary reflux-induced chronic remnant gastritis after partial gastrectomy [12, 18, 19]. Intestinal metaplasia with HGIN has a 33–85 % chance of GC [12]. Families with autosomal dominant diffuse-type GC require genetic diagnosis and prophylactic gastrectomy [33], because the efficiency of surveillance is unproven for diffuse-type GC which is poorly detectable.

Table 1.4

Individuals with increased risk for gastric cancer [12, 18–20, 33]

High risk for	Surveillance endoscopy [12]
High risk for	Onset at years	Intervals (years)
(a) Intestinal-type GC
1. Atrophic gastritis type B with IM^a (H.p. pos.)	Index endoscopy	→ H.p. eradication
Polypoid-type chronic gastritis with IM^a	Individualize	Unknown
2. Chronic autoimmune gastritis type A with IM^a	Index endoscopy	Unknown
3. Gastric intestinal metaplasia (IM^a)	Check at 3 months with mapping and biopsies	3 months–1 year
IM^a and low-grade IEN	Check at 3 months with mapping and biopsies	3 months–1 year
IM^a and high-grade IEN	Confirm → ESD or surgery	½–1 year
4. Partial Billroth II gastrectomy	Index endoscopy	→ H.p. eradication
(Chronic bile reflux gastritis)	15 years after PGE	2–3 years
5. Gastric adenoma (35 % malignant foci, [17])	EMR or ESD	1–3 years
6. FAP (gastro-/duodenoscopy) and HNPCC [12]	Index endoscopy and individualize	6 months–3 years
(b) Diffuse-type GC
5. Hereditary diffuse GC (30 % CDH1 mutation)	Genetic diagnosis [33]	Prophylactic gastrectomy

Recommendations of the ASGE [12]

^a IM intestinal metaplasia

1.3.2 Esophageal Squamous Cell Cancer

Cancer of the squamous cell epithelium of the esophagus is relatively rare with incidence rates of 1.5–5 per 100,000 and year in most countries, except for a few high-prevalence areas such as Hunyuan county/China, Singapore, and Iran (incidence rates up to 140/10⁵/year) [1, 12, 34]. Therefore, endoscopic screening is not indicated in general, but index endoscopy and surveillance is recommended for some groups with high risk for SCC [12, 35, 36].

Evidence for inheritance of esophageal cancer is lacking, although familial clustering has rarely been reported for SCC as well as Barrett’s esophagus [34].

1.3.2.1 Risk Groups for Esophageal SCC

The risk of esophageal SCC is increased in men (4-fold vs women), in particular with chronic heavy smoking and alcohol abuse (approx. 25-fold) [34, 35]. The latter group may undergo surveillance endoscopy starting at the age of 50 years – without proven evidence [12]. In addition, some cancers of the upper GI tract are strongly associated. Head-and-neck SCC exhibits an ~20 % risk of syn- or metachronous esophageal SCC [36] and the latter an ~10 % risk of metachronous intestinal-type gastric cancer. About 10 % of oropharyngeal SCC show syn- or metachronous SCC in the esophagus [37, 38]. Patients treated for these carcinomas need surveillance endoscopies of the oro- and hypopharynx, esophagus, and stomach.

Diseases with increased risk of esophageal SCC are prolonged esophageal mucosal damage caused by achalasia and status post lye injury or chronic caustic injury, e.g., caused by hot beverages [39, 40]. Some hereditary diseases of squamous epithelium have a high risk of esophageal cancer such as tylosis with palmar and plantar hyperkeratosis [41]. Deficiency of zinc, selenium, or folate and endemic human papilloma virus infection of the esophagus may increase the risk of esophageal SCC [36, 42–44]. High-risk groups for SCC justifying surveillance endoscopies every 1–3 years are listed in Table 1.5.

Table 1.5

Individuals with high risk of esophageal cancer [12, 35, 37–41, 44–46]

High risk for	Surveillance endoscopy [12, 45]
High risk for	Recommended onset	Intervals (years)
Esophageal SCC
Aerodigestive tract SCC (head and neck ~, lung ~)	One index endoscopy	Unknown
Syn-/metachronous esophageal SCC (in 10 % of patients)	Individualize	Unknown
Gastric cancer (risk of double cancer)	One index endoscopy	Unknown
Achalasia (16-fold↑ risk after ~14 years)	15 years after onset	Unknown
Strictures from lye, radiation of caustic injury	10–15 years after injury	1–3
Partial gastrectomy (PGE) (chronic bile reflux esophagitis)	15 years after PGE	2–3
Hereditary diseases of the squamous epithelium, e.g., tylosis	At age 30 years	1–3
Papillomavirus infection	(High-risk immigrant)	Unknown
Adenocarcinoma of the esophagus or GEJ
Barrett’s esophagus in GERD	See Chap. 7
Alcohol and smoking	Index endoscopy	Individualize
Obesity (abdominal type)	–	Unknown

1.3.3 Adenocarcinoma of the Esophagus or Gastroesophageal Junction (GEJ)

Since 40 years the incidence of previously rare adenocarcinoma (AC) of the esophagus and the gastroesophageal junction has rapidly increased, and this AC is now the prevailing type of esophageal cancer in the USA and Western Europe [1, 45, 47]. Nearly all of these AC arise from Barrett’s epithelium, i.e., columnar-lined epithelium without or with intestinal metaplasia [47, 48]. The underlying cause for transformation to Barrett’s epithelium is chronic gastroesophageal reflux disease (GERD) [49], which is favored by abdominal-type obesity, hiatal hernia, and Western diet high in calories, fat, and animal meat and low in fiber [45, 47]. The role of gastric infection with Helicobacter pylori is controversial for AC. Chronic gastroesophageal reflux disease is the most important risk factor, next to chronic alcohol ingestion and smoking [50].

1.4 Standards for Screening and Surveillance Endoscopy

Detection of small (<10 mm) and minute (<5 mm) neoplastic lesions during screening or surveillance endoscopy depends on (a) proper cleaning and preparation of the organs, (b) examination technique and endoscopic equipment, and (c) experience and alertness of the examiner. To assure outcome quality of these diagnostic procedures, published benchmark criteria (see below) should be monitored, evaluated, and achieved in every endoscopy unit.

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