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

• Kim HN
• Lee HJ
• Kim MH
• Kim JS
• Yang JH
• Yoon SY
• Lim CS
• Lee KN

• KMID: 1435752
• DOI: http://doi.org/10.3343/lmo.2012.2.1.8

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

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  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).

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

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  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

1. Brunning RD, Porwit A, et al. Swerdlow SH, Campo E, editors. Myelodysplastic syndromes/neoplasms, overview. WHO classification tumours of haematopoietic and lymphoid tissues. 2008. 4th ed. Lyon: IARC;87–93.

2. Nolte F, Hofmann WK. Myelodysplastic syndromes: molecular pathogenesis and genomic changes. Ann Hematol. 2008. 87:777–795.

3. Le Beau MM, Albain KS, Larson RA, Vardiman JW, Davis EM, Blough RR, et al. Clinical and cytogenetic correlations in 63 patients with therapy-related myelodysplastic syndromes and acute nonlymphocytic leukemia: further evidence for characteristic abnormalities of chromosomes no. 5 and 7. J Clin Oncol. 1986. 4:325–345.

4. Stamatoullas A, Callat MP, Marreiros S, Tilly H, Bastard C. Unusual complex hyperdiploid karyotypes in myelodysplastic syndromes. Cancer Genet Cytogenet. 2006. 170:129–132.

5. Znoyko I, Stuart RK, Ellingham T, Winters J, Wolff DJ, Quigley DI. Tetraploidy and 5q deletion in myelodysplastic syndrome: a case report. Cancer Genet Cytogenet. 2008. 183:64–68.

6. Iyer RV, Sait SN, Matsui S, Block AW, Barcos M, Slack JL, et al. Massive hyperdiploidy and tetraploidy in acute myelocytic leukemia and myelodysplastic syndrome. Cancer Genet Cytogenet. 2004. 148:29–34.

7. Tanaka M, Takeuchi H, Kaku K, Oka Y. Myelodysplastic syndrome associated with hypotriploidy. Acta Haematol. 1996. 95:148–150.

8. Watanabe A, Inokuchi K, Yamaguchi H, Mizuki T, Tanosaki S, Shimada T, et al. Near-triploidy and near-tetraploidy in hematological malignancies and mutation of the p53 gene. Clin Lab Haematol. 2004. 26:25–30.

9. Manley R, Cochrane J, Patton WN. Polyploidy in myelodysplastic syndrome: a case report. Cancer Genet Cytogenet. 1998. 106:170–172.

10. Lim G, Oh SH, Choi JR, Lee HJ, Suh JT, Yoon HJ, et al. Leukemic transformation associated with massive hyperdiploidy in myelodysplastic syndrome (MDS) with der(1;7)(q10;p10): a novel case study. Leuk Res. 2010. 34:e208–e209.

11. Borgström GH, Vuopio P, De la Chapelle A. Polyploidy of the bone marrow. Scand J Haematol. 1976. 17:123–131.

12. Im M, Lee JK, Lee DY, Hong YJ, Hong SI, Kang HJ, et al. Near-tetraploidy acute myeloid leukemia with RUNX1-RUNX1T1 rearrangement due to cryptic t(8;21). Korean J Lab Med. 2009. 29:510–514.

13. Xue Y, Pan Y, Liu Z, Li J, Guo Y, Xie X. Tetraploid or near-tetraploid clones characterized by two 8;21 translocations and other chromosomal abnormalities in two patients with acute myeloblastic leukemia. Cancer Genet Cytogenet. 1996. 92:18–23.