Polymorphisms in XPC provide prognostic information in acute myeloid leukemia.

Acute myeloid leukemia (AML) is the most common type of adult leukemia for which cytosine arabinoside-based chemotherapy is the main treatment. Single nucleotide polymorphisms within the nucleotide excision repair pathway may alter the susceptibility of leukemia cells to chemotherapy. We investigated the roles of six single nucleotide polymorphisms (ERCC5rs76871136, ERCC5rs77569659, ERCC5rs873601, XPCrs2228000, XPCrs2228001, and XPCrs1870134) in the nucleotide excision repair pathway in influencing the outcome of patients with AML treated with cytosine arabinoside-based chemotherapy. One hundred fifty-one patients with AML in a Chinese population were enrolled in this study. Genotypes were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. We found that the distribution of three genotypes of XPCrs1870134 significantly differed in the cytogenetic risk groups (P = 0.04). A statistically significant correlation between polymorphisms of XPCrs2228001 and gender was found among the gender groups (P = 0.03). Moreover, patients carrying at least one variant allele (XPCrs2228001AA+CC) were more likely to respond better than those who did not carry a variant. However, no significant association was detected between polymorphisms in ERCC5 and treatment response. These findings suggest that XPC polymorphisms are important markers for the outcome of patients with AML in the Chinese population.