Research Communication: Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia.

Fanconi anaemia (FA), a rare genetic disorder of DNA repair, predisposes to squamous cell carcinomas of head, neck and oesophagus. We assessed the value of screening esophagogastroduodenoscopy (EGD) in 20 asymptomatic adults (median age 23.5, 65% female) with FA, compared to age-and sex-matched non-FA patients enrolled at a 3:1 ratio. Among 11 FA patients with abnormal oesophageal mucosa, 15% had low-grade dysplasia, nodular high-grade dysplasia or squamous carcinoma in situ, 10% had non-dysplastic Barrett's oesophagus and 30% had columnar epithelium without goblet cells, compared to none in the controls (p < 0.001). Our findings support routine EGD screening of asymptomatic FA patients.