Research Communication: Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia.
Publication/Presentation Date
11-1-2025
Abstract
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.
Volume
62
Issue
9
First Page
939
Last Page
943
ISSN
1365-2036
Published In/Presented At
Sloan, J. A., Wongjarupong, N., Christian, V., Azeem, N., Turner, K. O., Gyawali, C. P., MacMillan, M. L., & Wagner, J. E. (2025). Research Communication: Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia. Alimentary pharmacology & therapeutics, 62(9), 939–943. https://doi.org/10.1111/apt.70257
Disciplines
Medicine and Health Sciences
PubMedID
41081458
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article