A Case of Acute Megakaryoblastic Leukemia Diagnosed by t(1;22)(p13;q13) / 대한진단검사의학회지

ABSTRACT

A four-year-old female initially presented with fever, cough, headache and bone pain. On admission, a complete blood cell count revealed anemia (Hb 8.4 g/dL, WBC 4, 630/microL, platelets 132, 000/microL) and a few blasts were observed in a peripheral blood smear. A bone marrow study revealed inadequate aspirate due to dry tap and extensive fibrosis on the biopsy section. Cytogenetic analysis showed a karyotype with 48, XX, t(1;22)(p13;q13), +der(1) t(1;22), +2. Considering the specificity of cytogenetic results and extensive myelofibrosis, acute megakaryoblastic leukemia was diagnosed. Acute megakaryoblastic leukemia with t(1;22)(p13;q13) is known to be a relatively clear-cut cytogeneticomorphological defined syndrome. Herein, we report a first case of acute megakaryoblastic leukemia with t(1;22)(p13;q13) in Korea.