Chromosome Breakage Test for the Diagnosis of Fanconi's Anemia / 대한임상병리학회지

ABSTRACT

BACKGROUND: Fanconi's anemia (FA) is an autosomal recessive disease characterized by aplastic anemia, pre-malignancy, congenital malformations and chromosome breakage syndromes. As up to 30% of patients have no detectable congenital anomalies, the modern diagnosis of FA rests on chromosomal breakage of patient's cells induced by chemical clastogens such as diepoxybutane (DEB) or mitomycin-C (MMC). METHODS: We have done chromosome breakage test to differentiate FA from 11 aplastic anemia, three Diamond-Blackfan syndrome, three myelodysplastic syndrome, one acute leukemia with congenital anomaly and three siblings of FA. The peripheral blood lymphocytes from each individual were co-cultured in phytohemagglutinin-containing medium by the three methods, i.e., DEB treated, MMC treated and un-treated. RESULTS: Five cases were found to have increased chromosomal breakages to DEB and MMC, confirming diagnosis of FA. Other 21 cases showed no increased chromosomal breakages. No overlap was found between FA group and others (P<0.01). In one FA, there was no increased spontaneous breakage, but increased breakage to DEB and MMC. Of five FA, one case showed no congenital anomalies. CONCLUSIONS: Chromosme breakage test was shown to be simple, reliable and useful in ascertaining the diagnosis of FA.