Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Juwon Kim; Tae Sung Park; Jaewoo Song; Kyung-A Lee; Sang-Guk Lee; June-Won Cheong; Jong Rak Choi

doi:10.3343/kjlm.2008.28.4.262

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Kim, Park, Song, Lee, Lee, Cheong, and Choi: Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Original Article

Korean J Leg Med 2008;28(4):262-266.

Published online: 14 February 2008

DOI: https://doi.org/10.3343/kjlm.2008.28.4.262

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Juwon Kim, M.D.¹, Tae Sung Park, M.D.¹, Jaewoo Song, M.D.¹, Kyung-A Lee, M.D.¹, Sang-Guk Lee, M.D.¹, June-Won Cheong, M.D.², Jong Rak Choi, M.D.¹

¹Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea

²Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea

Received 4 February 20084 June 2008 Accepted 10 June 2008

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

Trisomy 8 is one of the most frequent numerical chromosomal abnormalities observed in hematological malignancies, whereas tetrasomy 8 is a clonal aberration seen mainly in myeloid disorders such as acute myelod leukemia (AML) and myelodysplastic syndromes. In contrast to trisomy 8, tetrasomy 8 is a rare chromosomal aberration, in that only 17 reported AML cases with isolated tetrasomy 8 have been documented. Interestingly, the majority of reported cases were associated with monocytic-lineage leukemias. According to recent reports, tetrasomy 8 is regarded as a poor prognostic factor, and most patients having this abnormality relapsed and died within 1 yr. Here, we report a patient with acute monoblastic leukemia having tetrasomy 8 and a very aggressive disease course.

Keywords: Acute myelogenous leukemia, Tetrasomy 8, Poor prognosis

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Fig. 1.

(A) Bone marrow smear (Wright-Giemsa, ×1,000) showing many large vacuolated monoblasts. (B) Monoblasts showing intense non-specific esterase activity (Non-specific esterase, ×1,000).

Fig. 2.

Giemsa-banding karyotype of the bone marrow cells: 48,XY,+8,+8.

Fig. 3.

Metaphase FISH of the bone marrow cells using a LSI IGH/MYC, CEP 8 Tri-color set DNA probe (Vysis, Downers Grove, IL, USA). (A) A metaphase cell was analyzed by a Metafer4-MetaCyte scanning system (MetaSystems, Germany). The four orange fluorescent spots indicate tetrasomy 8. The other two green signals indicate immunoglobulin heavy chain (IGH) locus on chromosome 14. (B) The SpectrumAqua CEP 8 probe shows centromere-specific 4 aqua signals of chromosome 8. (C) A LSI IGH/MYC, CEP 8 Tri-color set DNA probe showing 4 orange signals (chromosome 8) and 2 green signals (chromosome 14) (Vysis).

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