Esophageal squamous cell carcinoma at the site of tracheo-esophageal fistula repair in a patient with cystic fibrosis.
Aditya Pradeep VyasAnil A KumarSam AbdehouSudha PanditPublished in: BMJ case reports (2023)
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.
Keyphrases
- cystic fibrosis
- end stage renal disease
- stem cells
- squamous cell
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- case report
- oxidative stress
- poor prognosis
- small bowel
- squamous cell carcinoma
- gene expression
- epithelial mesenchymal transition
- mesenchymal stem cells
- young adults
- patient reported outcomes
- binding protein
- copy number
- patient reported
- lymph node metastasis
- diffusion weighted imaging