Screening strategy for gastrointestinal and hepatopancreatobiliary cancers in cystic fibrosis

Table 1 Epidemiology of gastrointestinal cancers in the cystic fibrosis population

Type of cancer	Incidence rate (per 100000 CF per year)	Odds ratio (95%CI)	Standardized incidence ratio (95%CI)	Ref.
Colorectal
Colon	39	-	10.91 (8.42-14.11)	Yamada et al[5]
Rectum	-	-	0.5 (0.0-2.6)	Maisonneuve et al[3]
Pancreatic	1-5.8	31.5 (4.8-205)	6.18 (1.31-29.27)	Neglia et al[4], Yamada et al[5], Maisonneuve et al[8]
Liver
Biliary tract	5.1	-	17.87 (8.55-37.36)	Yamada et al[5]
Stomach	-	-	4.5 (1.2-12.3)	Maisonneuve et al[3]
Esophagus	-	14.3 (1.4-148)	2.8 (0.1-13.8)	Maisonneuve et al[3], Neglia et al[4]
Small bowel	13	-	18.94 (9.37-38.27)	Yamada et al[5]

Odds ratio and standardized incidence ratio are comparing cancers in cystic fibrosis versus cancers in the general population. CF: Cystic fibrosis; CI: C interval.

Table 2 Proposed screening strategy for organ-specific gastrointestinal cancers in the cystic fibrosis population

Tumor location	Potential risks for cancer development1	Methods or screening	Proposed age at time of screening	Screening interval
Colon cancer[3,5,62]	Solid organ transplantation; Immunosuppressive therapy; Severe CFTR mutations; Familial adenomatous polyps; Hereditary cancer syndromes; (e.g., lynch syndrome); Inflammatory bowel disease	Colonoscopy	Non-transplanted: 40 yr; Transplanted: 30 yr and older (begin screening within 2 yr of transplant; unless negative colonoscopy in previous 5 yr)	Non-transplanted: Every 5 yr; Transplanted (or previous colonoscopy positive for adenomatous polyps): Every 3 yr after transplant (or polyps found)
Biliary tract cancer[5,63-67]	Solid organ transplantation; Immunosuppressive therapy; Severe CFTR mutations; Chronic biliary tract inflammation: (1) Primary sclerosing cholangitis; (2) Choledochal cysts; (3) Chronic cholelithiasis, choledocholithiasis; and (4) Hepatolithiasis. Chronic viral and non-viral liver diseaseInfections; (i.e., HIV, Helicobacter pylori, certain parasites); Obesity;Other genetic conditions (i.e., lynch syndrome, multiple biliary papillomatosis, BAP1 tumor predisposition syndrome)	Abdominal ultrasound, MRCP, or endoscopic ultrasonography; Measurement of CA-19-9	Non-transplanted: 40 yr; Transplanted: 30 yr (or within 2 yr after transplant)	Non-transplanted: Every 2-3 yr; Transplanted: Every 1-2 yr after transplant
Pancreatic cancer[6]	Solid organ transplantation; Immunosuppressive therapy; Severe CFTR mutations; Family history of pancreatic cancers (hereditary pancreatitis); Chronic pancreatitis; Frequent exposure to radiation (i.e., X-rays and computed tomography scans)	Abdominal ultrasound, MRCP, or endoscopic ultrasonography; Measurement of CA-19-9	Non-transplanted: 40 yr; Transplanted: 30 yr (or within 2 yr after transplant)	Non-transplanted: Every 2-3 yr; Transplanted: Every 1-2 yr after transplant
Small bowel cancer[29]	Distal intestinal obstruction syndrome; Solid organ transplantation; Immunosuppressive therapy; Severe CFTR mutations	Terminal ileal intubation at time of colonoscopy (efficacy and safety of capsule endoscopy or balloon endoscopy need to be determined)	Non-transplanted: 40 yr; Transplanted: 30 yr (or within 2 yr after transplant)	Non-transplanted: Every 5 yr; Transplanted: Every 3 yr after transplant
Barrett’s esophagus and esophageal adenocarcinoma[29]	Long standing GERD; Solid organ transplantation; Immunosuppressive therapy; Severe CFTR mutations;	Upper endoscopy	N/A2; 50 yr in non-CF population	N/A2
Hepatocellular carcinoma[39]	Cirrhosis	Abdominal ultrasound; Measurement of AFP	N/A2	N/A2

¹Risk factors should be considered on an individual basis, based on the clinician’s judgment of screening strategies.

²Data is not currently available in the literature. MRCP: Magnetic resonance cholangiopancreatography; CA-19-9: Carbohydrate-19-9 antigen; CF: Cystic fibrosis; N/A: Not available.