MEL1S, not MEL1, is overexpressed in myelodysplastic syndromes patients with t(1;3)(p36;q21).

Balanced chromosomal translocations rarely occur in myelodysplastic syndromes (MDS). We describe here in three further Chinese patients with myelodysplastic syndromes (MDS) whose cytogenetic analysis showed t(1;3)(p36;q21). We detected the expression pattern of MEL1 and MEL1s in BM of two healthy subjects and the three patients, and found that the expression of MEL1s was overexpressed in MDS patients with t(1;3)(p36;q21). Our findings combined previous observations reported in literature support that MDS patients with t(1;3)(p36;q21) should be a new specific subset of MDS. Imbalance of a complete MEL1 message with a PR domain and a short MEL1 message lacking a PR domain (MEL1S) might be involved in the pathogenesis of these patients.