Interferon regulatory factor-1 (IRF-1) mRNA expression was examined in specific cell populations (BMMC, CD34 + and CD71 + ) derived from 45 MDS patients and 20 controls. All the MDS cell populations, presented an identical IRF-1 mRNA expression pattern, characterized by the absence of full-length IRF-1 mRNA and presence of multiple alternative transcripts. The most common deletions involved exons 2 and 3. Two novel truncated IRF-1 protein forms were detected in MDS BMMC. IRF-1-induced iNOS mRNA expression was exclusively detected in BMMC having full-length transcript. The expression of IRF-1 truncated mRNA and protein forms might be a critical event in the development of MDS.