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

Ha-Nui Kim; Hye-Jin Lee; Myung-Han Kim; Jang-Su Kim; Jin Hyuk Yang; Soo Young Yoon; Chae-Seung Lim; Kap-No Lee

doi:10.3343/lmo.2012.2.1.8

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Kim, Lee, Kim, Kim, Yang, Yoon, Lim, and Lee: Chromosomal Abnormalities in Myelodysplastic Syndrome with Near-tetraploidy: A Case Report

Case Report

Diagnostic Hematology

Laboratory Medicine Online

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

Published online: 1 January 2012

DOI: https://doi.org/10.3343/lmo.2012.2.1.8

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

Ha-Nui Kim, M.D., Hye-Jin Lee, M.D., Myung-Han Kim, M.D., Jang-Su Kim, M.D., Jin Hyuk Yang, M.D., Soo Young Yoon, M.D., Chae-Seung Lim, M.D., Kap-No Lee, M.D.

Department of Laboratory Medicine, School of Medicine, Korea University, Seoul, Korea.

Corresponding author: Chae-Seung Lim, M.D. Department of Laboratory Medicine, Korea University Guro Hospital, 97 Gurodong-gil, Guro-gu, Seoul 152-703, Korea. Tel: +82-2-2626-3245, Fax: +82-2-2626-1465, malarim@korea.ac.kr

Received 9 March 2011 Revised 15 June 2011 Accepted 12 August 2011

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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,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.

Keywords: Tetraploidy, Near-tetraploidy, Myelodysplastic syndrome

Figures and Tables

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).

Notes

This article is available from http://www.labmedonline.org

References

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.

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