Duplication of part of the long arm of chromosome 1 in myelofibrosis terminating in acute myeloblasts leukemia

Abstract

A 47-year-old man with myelofibrosis terminating in acute myeloblastic leukemia is described. Bone marrow metaphases showed a consistent chromosomal abnormality 46, XY, -6, + der (6), t(1;6) (q23;p21). When blast cells appeared in the peripheral blood the same abnormality was found in these cells, whereas PHA-stimulated lymphocytes had normal karyotypes. It is suggested that duplication of the region between q23 and q25 on chromosome 1 is of particular importance for the development of certain mycloproliferative diseases, terminating in acute mycloblastic leukemia.