With increasing survival in patients with cystic fibrosis (CF), complications such as gastrointestinal (GI) malignancies are becoming more apparent, especially in transplanted patients. In patients with CF, these malignancies are most commonly found in the small bowel, colon, biliary tract and pancreas. We describe a patient with esophageal squamous cell cancer at the site of trachea-esophageal fistula repair in the setting of long-standing CF. Many factors such as low expression of CF transmembrane conductance regulator gene, inflammation and resulting metaplasia, bacterial dysbiosis, dysregulation of Wnt/β-catenin signalling, immune cell infiltration, disruption of intestinal stem cell homeostasis and intestinal barrier integrity have all been implicated in the causation of GI malignancy in patients with CF. Based on shared decision-making in high-risk transplanted individuals, esophagogastroduodenoscopy can be considered alongside colon cancer screening which is currently recommended starting at age 30–35 years.
- Oesophageal cancer
- Cystic fibrosis
- Genetic screening / counselling
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APV and AA are joint first authors.
Contributors All authors: drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content. SP: final approval of the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.