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KMID : 1100820120020010047
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Laboratory Medicine Online
2012 Volume.2 No. 1 p.47 ~ p.50
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Chromosomal Abnormalities in Myelodysplastic Syndrome with Near-tetraploidy: A Case Report
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Kim Ha-Nui
Lee Hye-Jin
Kim Myung-Han
Kim Jang-Su
Yang Jin-Hyuk
Yoon Soo-Young
Lim Chae-Seung
Lee Kap-No
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Abstract
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Massive hyperdiploidy and tetraploidy are rare cytogenetic abnormalities in myelocytic malignancies, especially in myelodysplastic syndrome (MDS). These abnormalities are known to be associated with leukemogenesis, leukemic transformation and poor prognosis. We report here the first case of MDS with near-tetraploid cytogenetic abnormality in Korea. A 80-yr-old male was diagnosed with refractory anemia with excess blasts-2 (RAEB-2). Bone marrow aspiration smear showed 16% of blasts, which were large sized myeloid blasts with irregular margins and cytoplasmic vacuolation. Cytogenetic analysis of bone marrow cells revealed numercal and structural cytogenetic abnormalities including near-tetraploidy in 8 of 20 metaphases: 45,XY,add(1)(p36.1),del(10)(p11.2),del(11)(q13),?12,?16,der(17)t(11;17) (q13;q21),add(20)(q13.1),+mar[8]/85~90,idem×2[cp8]/46,XY[4]. After chemotherapy with decitabine, he showed pancytopenia during follow-up period and died of sepsis 14 months after the diagnosis.
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KEYWORD
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Tetraploidy, Near-tetraploidy, Myelodysplastic syndrome
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