Korean J Lab Med.  2003 Dec;23(6):371-374.

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

Affiliations
  • 1Department of Laboratory Medicine, Sungkyunkwan University, School of Medicine, Samsung Medical Center, Seoul, Korea. sunnyhk@smc.samsung.co.kr
  • 2Department of Pediatrics, Sungkyunkwan University, School of Medicine, Samsung Medical Center, Seoul, Korea.

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.

Keyword

t(1;22)(p13;q13); Pediatric leukemia; Myelofibrosis; Acute megakaryoblastic leukemia

MeSH Terms

Anemia
Biopsy
Blood Cell Count
Bone Marrow
Cough
Cytogenetic Analysis
Cytogenetics
Female
Fever
Fibrosis
Headache
Humans
Karyotype
Korea
Leukemia, Megakaryoblastic, Acute*
Primary Myelofibrosis
Sensitivity and Specificity
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