Screening strategy for gastrointestinal and hepatopancreatobiliary cancers in cystic fibrosis

Abstract

Based on systematic review and meta-analysis, the risk for developing cancers in patients with cystic fibrosis (CF) is known to be significantly greater than in the general population, including site-specific cancers of the esophagus, small bowel, colon, liver, biliary tract, and pancreas. An even higher risk has been found in patients who have severe CF transmembrane conductance regulator ( CFTR ) genotypes or who have undergone organ transplantation and are immunosuppressed. The risk continues to rise as life expectancies steadily climb due to advancements in medical care and treatment for CF. The colorectal cancer risk is at such a high level that CF has now been declared a hereditary colon cancer syndrome by the Cystic Fibrosis Foundation. The CFTR gene has been strongly-associated with the development of gastrointestinal (GI) cancers and mortality in the CF population. Even CF carriers have shown an increased rate of GI cancers compared to the general population. Several limitations exist with the reported guidelines for screening of GI and hepatopancreatobiliary cancers in the CF population, which are largely universal and are still emerging. There is a need for more precise screening based on specific risk factors, including CFTR mutation, medical co-morbidities (such as gastroesophageal reflux disease, distal intestinal obstruction syndrome, and diabetes mellitus), familial risks for each cancer, gender, age, and other factors. In this review, we propose changes to the guidelines for GI screening of patients with CF. With the development of CFTR modulators, additional studies are necessary to elucidate if there is an effect on cancer risk.

Risk Factors of Health-Related Quality of Life among Gastrointestinal Cancer Survivors in the U.S.: With a Focus on Social and Behavioral Determinants of Health (SBDH)

“…For example, liver and pancreatic cancers generally have a poor prognosis and are often diagnosed at advanced stages with high mortality rates [9]. Furthermore, this can be due to the better prognosis of colorectal cancer compared with liver or pancreatic cancer, as the early screening and diagnosis of colorectal cancer are well-established [25]. Future consideration of a weighted regression model is suggested to examine the contribution of each GI cancer type on HRQoL.…”

Need to study simplification of gastrointestinal medication regimen in cystic fibrosis in the era of highly effective modulators

“…GERD has been reported as high as 80% in PwCF with higher episodes of proximal esophageal reflux. 11 Persistent, untreated or undertreated GERD can increase the risk of Barrett's esophagus and esophageal adenocarcinoma. 12 With the possibility of HEMT improving symptoms of GERD, 7 ongoing need for ASM must be reassessed.…”

“…ASM are most often utilized to treat symptoms of gastroesophageal reflux disease (GERD). GERD has been reported as high as 80% in PwCF with higher episodes of proximal esophageal reflux 11 . Persistent, untreated or undertreated GERD can increase the risk of Barrett's esophagus and esophageal adenocarcinoma 12 .…”

“…While this is expected, it highlights the urgency of studying simplification of the GI medication regimenwith scientific rigor, so that CF providers can better understand the nuances of these changes and the impact, positive or negative it may have on PwCF for the short and long term. As PwCF are known to have CFTR in the stomach contributing to lower pH of refluxate, there is the potential that persistent, untreated or undertreated GERD will increase the risk of acid exposure to the esophagus and therefore the incidence of Barrett's esophagus or esophageal adenocarcinoma 11,12. Often PwCF experience atypical symptoms or no symptoms of GERD, however, the consequence of developing sequalae remains.…”