Laboratory Medicine Online  2012;2(1):47-50

doi:10.3343/lmo.2012.2.1.8

Chromosomal Abnormalities in Myelodysplastic Syndrome with Near-tetraploidy: A Case Report.

Ha Nui KIM 1 ; Hye Jin LEE ; Myung Han KIM ; Jang Su KIM ; Jin Hyuk YANG ; Soo Young YOON ; Chae Seung LIM ; Kap No LEE

Affiliations

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Keywords

Tetraploidy; Near-tetraploidy; Myelodysplastic syndrome

Country

Republic of Korea

Language

Korean

Abstract

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,idemx2[cp8]/46,XY[4]. After chemotherapy with decitabine, he showed pancytopenia during follow-up period and died of sepsis 14 months after the diagnosis.