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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 939-943 |
| Number of pages | 5 |
| Journal | Alimentary Pharmacology and Therapeutics |
| Volume | 62 |
| Issue number | 9 |
| DOIs | |
| State | Published - Nov 2025 |
Bibliographical note
Publisher Copyright:© 2025 The Author(s). Alimentary Pharmacology & Therapeutics published by John Wiley & Sons Ltd.
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
-
SDG 3 Good Health and Well-being
Keywords
- Barrett's oesophagus
- dysplasia
- Fanconi anaemia
- oesophageal squamous cell carcinoma
PubMed: MeSH publication types
- Journal Article
Fingerprint
Dive into the research topics of 'Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia: Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia'. Together they form a unique fingerprint.Cite this
- APA
- Standard
- Harvard
- Vancouver
- Author
- BIBTEX
- RIS