Ann Lab Med.  2012 Jul;32(4):294-297. 10.3343/alm.2012.32.4.294.

A Case of Near-triploidy in Myelodysplastic Syndrome with del(5q) Combined with del(1p) and del(13q)

• Kim BR
• Kim JE
• Woo KS
• Kim KH
• Kim JM
• Lee S
• Shaffer LG
• Han JY

• KMID: 1380090
• DOI: http://doi.org/10.3343/alm.2012.32.4.294

Abstract

Numerical and structural chromosomal abnormalities are common in hematological malignancies. Near-triploidy (58-80 chromosomes) is a numerical abnormality observed in 3% of adult cases of acute lymphoblastic leukemia. Near-triploidy is rare in myeloid lineage hematologic malignancies and compared to near-triploidy in lymphoid malignancies, near-triploidy in myeloid malignancies is associated with poor outcomes. Few studies on near-triploidy in myelodysplastic syndrome (MDS) have been reported, and the clinicopathologic significance of this condition is still unclear. Here, we report a novel case of MDS with near-triploidy and multiple structural chromosomal abnormalities: del(5q) combined with del(1p) and del(13q). These abnormalities were detected by cytogenetic analysis with array comparative genomic hybridization (CGH). Our results suggest that array CGH can be a useful tool for detecting chromosomal abnormalities in patients with MDS.

Keyword

Near-triploidy; Myelodysplastic syndrome; Array CGH

MeSH Terms

Aged
Bone Marrow Cells/pathology
*Chromosome Deletion
Comparative Genomic Hybridization
Humans
Karyotyping
Male
Myelodysplastic Syndromes/*genetics
Triploidy

Figure

• 

  Fig. 1 Bone marrow examination showed moderate dyserythropoiesis (A) and dysmegakaryopoiesis (B). Multi nucleation, nuclear budding erythroids, and unconnected nuclei megakaryocytes are marked with arrow (Wright-Giemsa stain, ×1,000).

• 

  Fig. 2 (A) A representative G-banded karyotype showing massive hyperdiploidy with del(1p), del(5q), and del(13q). Chromosome numbers are listed in green, and extra chromosomes are marked with arrows. (B) Whole genomic plot of the array CGH results showing additional copy gains in chromosomes 9 and 16. The pink dots represent the patient-to-control fluorescence intensity ratio, while the blue dots show dye-reversed control-to-patient fluorescence ratios. Array CGH revealed cryptic aberrations, mostly copy losses of 2.23-574.67 kb on 1q, 3p, 5q, and 7q. However, trisomies, tetrasomies, or pentasomies were not differentiated solely on the basis of array findings, and copy gains on 10q and 22q and copy losses on 18q identified by karyotypic analysis were not observed with array CGH. See the results section for more detailed array interpretation. Abbreviation: CGH, comparative genomic hybridization.

Reference

1. Sabattini E, Bacci F, Sagramoso C, Pileri SA. WHO classification of tumours of haematopoietic and lymphoid tissues. Pathologica. 2010. 102:83–87.

2. Solé F, Luño E, Sanzo C, Espinet B, Sanz GF, Cervera J, et al. Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica. 2005. 90:1168–1178.

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. 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.

6. 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.

7. 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.

8. Acar H, Calişkan U U, Kaynak M, Yildirim MS, Largaespada DA. Hyperdiploid karyotype in a childhood MDS patient. Clin Lab Haematol. 2001. 23:255–258.

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

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

11. Bacher U, Haferlach T, Kern W, Weiss T, Schnittger S, Haferlach C. The impact of cytomorphology, cytogenetics, molecular genetics, and immunophenotyping in a comprehensive diagnostic workup of myelodysplastic syndromes. Cancer. 2009. 115:4524–4532.

12. Kawankar N, Vundinti BR. Cytogenetic abnormalities in myelodysplastic syndrome: an overview. Hematology. 2011. 16:131–138.

13. Shaffer LG, Slovak MI, Campbell LJ, editors. An International System for Human Cytogenetic Nomenclature (ISCN). 2009. Basel: S, Karger;36–84.

14. Hu J, Gao JB, Cao Y, Bottinger E, Zhang W. Exploiting noise in array CGH data to improve detection of DNA copy number change. Nucleic Acids Res. 2007. 35:e35.

15. 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.

16. Sheth FJ, Sheth JJ, Desai C. Case of near triploidy with i(17)(q10) in blast crisis CML. Cancer Genet Cytogenet. 2006. 164:177–178.

17. Roland B. A case of near-triploidy in chronic myelogenous leukemia. Cancer Genet Cytogenet. 2000. 121:96–98.

18. Mallo M, Cervera J, Schanz J, Such E, García-Manero G, Luño E, et al. Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q. Leukemia. 2011. 25:110–120.

19. Lee HR, Oh B, Hong DS, Zang DY, Yoon HJ, Kim HJ, et al. Cytogenetic features of 5q deletion and 5q- syndrome in myelodysplastic syndrome in Korea; marker chromosomes proved to be chromosome 5 with interstitial deletion by fluorescence in situ hybridization. Cancer Genet Cytogenet. 2010. 203:193–202.

20. Martínez-Ramírez A, Urioste M, Melchor L, Blesa D, Valle L, de Andrés SA, et al. Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH array. Genes Chromosomes Cancer. 2005. 42:287–298.

21. Praulich I, Tauscher M, Göhring G, Glaser S, Hofmann W, Feurstein S, et al. Clonal heterogeneity in childhood myelodysplastic syndromes-challenge for the detection of chromosomal imbalances by array-CGH. Genes Chromosomes Cancer. 2010. 49:885–900.