Clonal Origin of Ph1-positive Cells in a Case of 46, XX/47, XXX/48, XXXX Mosaicism Associated with Chronic Myelocytic Leukemia

A 44-year-old female diagnosed as having chronic myelogenous leukemia (CML) in the acute phase is found to possess three cell lines, 46, XX (35%), 47, XXX (50%), and 48, XXXX (15%), in cultured lymphocytes, although her skin culture shows exclusively a 47, XXX karyotype. By contrast, all of the bone marrow cells examined in the acute phase as well as in remission and relapse has a 47, XXX, t(9;22) constitution, with some random karyotypic variations in the initial acute phase before therapy. These findings seem to provide additional evidence for the monoclonal origin of Ph1-positive cells in CML.