Simultaneous Occurrence of t(8;21) and del(5q) in Myeloid Neoplasms
The translocation t(8;21)(q22;q22) and the deletion of the long arm of chromosome 5, del(5q), are two acquired chromosome abnormalities which characterize distinct biological entities of hematologic neoplasms. We have observed two patients, a 9 year old girl with refractory anemia with excess of blasts in transformation (RAEB-T) overting to M2-AML and a 50 year old woman with refractory anemia with excess of blasts (RAEB) in whom both abnormalities concurred in the same cell clone. After chemotherapy the girl underwent a successful allogeneic bone marrow transplantation (BMT) from her sister and has remained in complete remission two years after diagnosis. The other patient received only erythrocyte transfusions and has been in stable condition for three years. In addition, a 33 year old man with a complex translocation t(5;8;21)(q13;q13;q11) is presented for comparison. His hematologic findings and clinical course was similar to that of other patients with a t(8;21). We conclude that in cases with two specific karyotype changes the biological features typically associated with one or the other chromosome abnormality may dominate the phenotype. It remains unclear whether the clinical and hematological appearance of the disease is determined by the abnormality which occurs first or by the one which predominates.
KeywordsAcute Promyelocytic Leukemia Macrocytic Anemia Acute Nonlymphocytic Leukemia Complex Translocation Erythrocyte Transfusion
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