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Abstract: The NQO1 C609T germline polymorphism resulting in a lowering of enzyme activity may confer susceptibility to MDS. To assess this association, we performed a case–control study including 330 Greek patients with de novo MDS and 416 healthy donors, using a Real-Time PCR genotyping method. Focusing on cytogenetic aberrations most commonly found in MDS, we retrospectively genotyped 566 MDS/AML patients carrying −5/del(5q), −7/del(7q), +8, del(20q) and −Y. The case–control analysis revealed no differences in NQO1 genotype distribution. Interestingly, a 6-fold increased frequency of the homozygous variant genotype was observed among patients with isolated trisomy 8 (p <0.0001), suggesting that null NQO1 activity may influence the occurrence of +8 in MDS/AML. [Copyright &y& Elsevier]