Case report of synchronous post-lung transplant colon cancers in the era of colorectal cancer screening recommendations in cystic fibrosis: screening “too early” before it’s too late

Abstract

Background The increasing life expectancy of individuals with Cystic Fibrosis ( CF ) is likely to be associated with new age-related challenges, colorectal cancer (CRC) most notably; recent consensus recommendations for CRC screening published in 2018 represent an important early step in addressing the emerging awareness of CF as a gastrointestinal cancer syndrome. These recommendations, however, need to be further refined based on more systematic data. We discuss an illustrative first-ever case of synchronous CRC arising in a post-lung transplant individual with CF within the recommended surveillance interval after a well-documented prior normal colonoscopy. Case presentation A 51-year-old female individual with homozygous F508del CF , presents to clinic with abdominal discomfort and intermittent blood in stools. She had previously undergone bilateral lung transplantation 18 years earlier, as well as two kidney transplants related to immunosuppression-related nephrotoxicity. A diagnostic colonoscopy was performed which revealed the presence of two separate synchronous colon cancers in the cecum and transverse colon; she had undergone a colonoscopy three years prior to this exam which was structurally normal. Endoscopic quality indicators, including a good quality bowel preparation, colonoscopic withdrawal time > 12 min, and quarterly Adenoma Detection Rate (ADR) ranging from 50 to 70% for both male and female patients for the endoscopist from both colonoscopic exams, as well as secondary retrospective comparative review of the pertinent case images, diminish the risk for a “missed” cancer or advanced lesion on the index exam. These cancers did not demonstrate any immunohistochemical features suggestive of Lynch Syndrome, though the rapid progression to cancer within the surveillance interval (possibly non-polypoid in nature) is similar. This cancer presentation within the newly-established recommended colon cancer screening interval warrants concern. Conclusions This case prompts serious discussion regarding the length of surveillance intervals in the post-transplant CF population (a population at 20–30 times greater risk for CRC compared to the general non- CF population), as well as the importance of documenting endoscopic quality benchmarks, particularly if a narrative of interval CRC development continues to develop with further prospective monitoring and multi-center experience.

Surveillance of Colorectal Cancer (CRC) in Cystic Fibrosis (CF) Patients

“…Data for the cost effectiveness analysis were obtained from simulation models for CRC [52]. Abraham et al consider that the optimal interval for the second colonoscopy screening in CF transplanted patients with a prior negative examination should be considered after 3 years if patients' age is between 35 and 55 years [53]. In case of very large polyps, multiple polyps or high-grade dysplasia, the surveillance interval should be shortened, and the patient should undergo a new colonoscopy within 1 year [54].…”

“…In the near future, the recommendation of Cystic Fibrosis Task Force for prevention of CRC [52] will be re-evaluated because the therapy with CFTR modulators could modify the incidence of CRC, based on penetrance condition, on the onset age of the disease and on the type of treatment carried out [53]. Actually, it is not possible to evaluate the different CRC incidences with the use of CFTR modulators because they have been on the market for a short time, not allowing to measure life expectancy.…”