TY - JOUR
T1 - Research Communication
T2 - Prevalence of Asymptomatic Premalignant Oesophageal Lesions in Patients With Fanconi Anaemia
AU - Sloan, Joshua A.
AU - Wongjarupong, Nicha
AU - Christian, Vikram
AU - Azeem, Nabeel
AU - Turner, Kevin O.
AU - Gyawali, C. Prakash
AU - MacMillan, Margaret L.
AU - Wagner, John E.
N1 - Publisher Copyright:
© 2025 The Author(s). Alimentary Pharmacology & Therapeutics published by John Wiley & Sons Ltd.
PY - 2025/11
Y1 - 2025/11
N2 - 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.
AB - 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.
KW - Barrett's oesophagus
KW - Fanconi anaemia
KW - dysplasia
KW - oesophageal squamous cell carcinoma
UR - https://www.scopus.com/pages/publications/105010706317
U2 - 10.1111/apt.70257
DO - 10.1111/apt.70257
M3 - Article
C2 - 41081458
AN - SCOPUS:105010706317
SN - 0269-2813
VL - 62
SP - 939
EP - 943
JO - Alimentary Pharmacology and Therapeutics
JF - Alimentary Pharmacology and Therapeutics
IS - 9
ER -