Korean J Lab Med.  2008 Aug;28(4):262-266. 10.3343/kjlm.2008.28.4.262.

Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

• Kim J
• Park TS
• Song J
• Lee KA
• Lee SG
• Cheong JW
• Choi JR

• KMID: 854887
• DOI: http://doi.org/10.3343/kjlm.2008.28.4.262

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.

Keyword

Acute myelogenous leukemia; Tetrasomy 8; Poor prognosis

MeSH Terms

*Aneuploidy
*Chromosomes, Human, Pair 8
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Leukemia, Monocytic, Acute/*diagnosis/genetics/pathology
Male
Middle Aged

Figure

• 

  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).

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  Fig. 2. Giemsa-banding karyotype of the bone marrow cells: 48,XY,+8,+8.

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  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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