Cytogenetic studies were performed in celiac disease (CD) patients to
determine if the presence of chromosome instability is related to the
predisposition to cancer. Chromosome aberrations (CA) and sister chrom
atid exchange (SCE) frequencies in peripheral blood lymphocyte culture
s from untreated CD patients and healthy controls were analyzed. Patie
nts showed aberrations in 23% of cells, while only 3% were detected in
the control group (p<0.0001). The mean frequencies of gaps, breaks an
d total CA were found to be higher in CD patients compared to controls
(p<0.0001). Breakpoint distribution was nonrandom among chromosomes f
rom celiac patients (p=0.01), but not among controls (p=0.04). The fre
quency of SCE/cell showed a mean value of 6.9+/-0.6 in CD patients and
7.3+/-0.2 in controls. No statistical differences were found. Breakpo
ints involved in CD patients presented a strong coincidence with the l
ocation of fragile sites (78.6%) and sites of cancer chromosome rearra
ngements (57.1%), most of them (75%) associated with malignant non-Hod
gkin lymphomas. These results suggest that CD is a condition with incr
eased chromosome instability characterized by a high level of CA and n
ormal SCE frequencies, probably related to the increased incidence of
cancer.