Lab Med Online.  2012 Jan;2(1):47-50. 10.3343/lmo.2012.2.1.8.

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

Affiliations
  • 1Department of Laboratory Medicine, School of Medicine, Korea University, Seoul, Korea. malarim@korea.ac.kr

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.

Keyword

Tetraploidy; Near-tetraploidy; Myelodysplastic syndrome

MeSH Terms

Anemia, Refractory
Azacitidine
Bone Marrow
Bone Marrow Cells
Chromosome Aberrations
Cytogenetic Analysis
Cytoplasm
Follow-Up Studies
Humans
Korea
Male
Myelodysplastic Syndromes
Pancytopenia
Prognosis
Sepsis
Tetraploidy
Azacitidine

Figure

  • Fig. 1 Bone marrow aspiration smears (Wright stain, ×1,000) show large sized myeloid blasts with irregular nuclear margins and vacuolation in cytoplasm (A) and dyserythropoiesis (B).

  • Fig. 2 Myeloperoxidase (MPO) stain of bone marrow aspiration (×1,000).

  • Fig. 3 Two representative karyotypes of the metaphases analyzed in the patient's bone marrow cells at the time of diagnosis. (A) A metaphase of stemline with add(1p),10p-,11q-,-12,-16,t(11;17),add(20q). (B) A metaphase of sideline with near-tetraploidy (85-90 chromosomes).


Reference

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