Chromosomal Abnormalities in Myelodysplastic Syndrome with Near-tetraploidy: A Case Report.
- Author:
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
Author Information
- Publication Type:Case Report
- Keywords: Tetraploidy; Near-tetraploidy; Myelodysplastic syndrome
- MeSH: 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
- From:Laboratory Medicine Online 2012;2(1):47-50
- CountryRepublic 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.
