A new translocation involving chromosomes 8 and 9 in a Philadelphia-negative chronic myelogenous leukemia

A new case is presented displaying typical features of the stable phase of chronic myelogenous leukemia (CML), with a complex translocation involving chromosomes 8q and 9q. Cytogenetic evaluation revealed an abnormal karyotype, 46,XY,t(8;9)(q22;q34). Both chromosomes 22 were found to be cytogenetically normal. After molecular evaluation the cytogenetic diagnosis was revised to 46,XY,t(8;9;22)(q22;q34;q11). The importance of the chimeric abl/bcr gene fusion product in the pathogenesis of CML is suggested as a characteristic feature, even in some patients with a so-called Philadelphia (Ph) negative CML. Utilization of molecular probes in the evaluation of such cases must become a routine diagnostic procedure. Our patient received the potential benefit of Ph-positive directed therapy because of the present approach.