Chromosome instability in untreated adult celiac disease patients

Spontaneous chromosome aberrations (CAs) and induced fragile sites (FSs) were analysed in 12 untreated adult coeliac disease (CD) patients and 8 healthy controls. Blood lymphocytes from each individual were cultured for 72 h at 37°C in F-10 medium with 5% fetal calf serum and 0.1 ml phytohemagglutinine. FSs were induced by FudR (10 μg/ml, 24h before harvesting) and caffeine (2.2 mM, 6 h before harvest). Spontaneous CAs and FSs were analysed on 30–50 Giemsa-stained and G-banded metaphases. The mean frequencies of spontaneous CAs (abnormal cells, gaps/cell and breaks/cell) of CD patients (0.24 ±0.02, 0.21 ±0.02 and 0.13 ±0.02, respectively) were significantly higher than those of controls (0.04±0.01, 0.02±0.01 and 0.02±0.01, respectively) (p < 0.001). Fourteen spontaneous CAs and 5 FSs specific for CD patients presented a strong coincidence (70%) with bands involved in T- and B-cell malignant lymphoma rearrangements. These findings suggest that CD has chromosome instability affecting specific points that could be related to the high prevalence of malignancies in this disorder.