A novel t(16;20)(q22;p13) in polycythemia vera

We report a patient with polycythemia vera whose bone marrow cells carried a novel t(16;20)(q22;p13) as detected by karyotype analysis using G- and Q-banding techniques. The reciprocal translocation was confirmed by fluorescence in situ hybridization (FISH) using DNA libraries of chromosomes 16 and 20. To our knowledge, t(16;20)(q22;p13) has not been reported previously. The core binding factor β (CBFβ) gene located on 16q22 is known to be frequently involved in acute myelocytic leukemia. On the other hand, the 20p13 locus contains a gene encoding protein kinase CK2α, which is closely related to cell proliferation and cell cycle regulation. The t(16;20)(q22;p13) may be one of the cytogenetic aberrations in myeloproliferative disorders, and therefore, our observation warrants further studies on a possible involvement of the genes resulting from this translocation.