FUSION OF PDGF RECEPTOR-BETA TO A NOVEL ETS-LIKE GENE, TEL, IN CHRONIC MYELOMONOCYTIC LEUKEMIA WITH T(512) CHROMOSOMAL TRANSLOCATION

Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome c haracterized by abnormal clonal myeloid proliferation and by progressi on to acute myelogenous leukemia (AML). CMML thus offers an opportunit y to study early genetic events in the transition to AML. A recently r ecognized subgroup of CMML has a t(5;12)(q33;p13) balanced translocati on. We report that the consequence of the t(5;12) translocation is exp ression of a fusion transcript in which the tyrosine kinase domain of the platelet-derived growth factor receptor beta (PDGFR beta) on chrom osome 5 is coupled to a novel ets-like gene, tel, on chromosome 12. Th e tel-PDGFR beta fusion demonstrates the oncogenic potential of PDGFR beta and may provide a paradigm for early events in the pathogenesis o f AML.