AN ISOCHROMOSOME OF THE LONG ARM OF CHROMOSOME-18 IN A PATIENT WITH MYELODYSPLASTIC SYNDROME WITH MYELOFIBROSIS

A case of myelodysplastic syndrome (MDS) with myelofibrosis and i(18q) is reported. The patient, a 29-year-old Chinese man, was noted to be anemic over a 10-year period. Recently, his spleen became progressivel y massive and bone marrow aspirates yielded ''dry taps'' on several oc casions. Hematologic investigation disclosed pancytopenia, numerous nu cleated red cells, and slightly increased myeloblasts (8%) in the peri pheral blood. Bone marrow aspirate and biopsy revealed hypercellular m arrow, trilineage dysplasia, and significant reticulin fibrosis, but w ithout collagen formation. Bone marrow karyotypic analysis with R-band ing showed an isochromosome 18q os a sole abnormality in 20 of 24 meta phases analysed. The patient died of severe anemia and bleeding due to bone marrow failure. We believe that i(18q) and myelofibrosis may be related to his poor prognosis.