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 progressively massive and bone marrow aspirates yielded “dry taps” on several occasions. Hematologic investigation disclosed pancytopenia, numerous nucleated red cells, and slightly increased myeloblasts (8%) in the peripheral blood. Bone marrow aspirate and biopsy revealed hypercellular marrow, trilineage dysplasia, and significant reticulin fibrosis, but without collagen formation. Bone marrow karyotypic analysis with R-banding showed an isochromosome 18q as a sole abnormality in 20 of 24 metaphases 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.