A Case of Acute Myeloid Leukemia with Masked t(8;21)

Hyunjung Kim; Myungshin Kim; Jihyang Lim; Yonggoo Kim; Kyungja Han; Sung Yong Kim; Hee Je Kim

doi:10.3343/kjlm.2006.26.5.338

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Kim, Kim, Lim, Kim, Han, Kim, and Kim: A Case of Acute Myeloid Leukemia with Masked t(8;21)

Original Article

Korean J Leg Med 2006;26(5):338-342.

Published online: 10 February 2006

DOI: https://doi.org/10.3343/kjlm.2006.26.5.338

A Case of Acute Myeloid Leukemia with Masked t(8;21)

Hyunjung Kim, M.D.¹, Myungshin Kim, M.D.¹, Jihyang Lim, M.D.¹, Yonggoo Kim, M.D.¹, Kyungja Han, M.D.¹, Sung Yong Kim, M.D.², Hee Je Kim, M.D.²

¹Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea

²Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea

Received 15 May 2006 Revised 29 September 2006 Accepted 8 October 2006

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

We report a case that revealed the characteristics of acute myeloblastic leukemia with maturation (AML-M2) on the morphology of the bone marrow biopsy and 45,X,-Y in conventional cytogenetic study, but was confirmed to have a typical AML1/ETO translocation by molecular studies using reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization. Insertion of ETO gene on chromosome 8 into chromosome 21 in this patient resulted in the development of the chimeric gene, AML1/ETO, on the long arm of chromosome 21. Our final report on the patient's karyotype: 45,X,-Y.ish ins(21;8)(q22;q22q22)(AML1+,ETO+;ETO+,AML1-). In case typical morphologic features compatible with recurrent cytogenetic abnormalities are shown, molecular studies in addition to conventional cytogenetic study might be required to confirm the diagnosis.

Keywords: Masked t(8:21), AML-M2, t(8;21), Fluorescence in situ hybridization

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Fig. 1.

Leukemic cells in (A) peripheral blood smear (×400) and in (B) bone marrow aspirate smear (×1,000, Wight Giemsa stain). They reveal large sized, round to oval shaped nuclei with or without nucleoli and moderate to abundant cytoplasm with azurophilic granules. Some leukemic cells show large azurophilic granules (abnormal fusion), and Auer rods are occasionally found. They also show cytoplasmic staining abnormalities, including homogenous pink colored cytoplasm.

Fig. 2.

The G-banded karyotype of the patient's bone marrow cells showing 45,X,-Y.

Fig. 3.

FISH analysis with LSI AML1 (orange)/ETO (green) dual color, dual fusion probe showed chromosome 8 (thick and thin orange arrows), one normal chromosome 21 (green arrow), and one fusion signal (white arrow) on chromosome 21, confirming the insertion of a fragment of ETO gene on chromosome 8 into the long arm of chromosome 21.

Fig. 4.

RT-PCR for the AML1/ETO fusion transcript. SM, size marker; lane 3, patient. The black arrow indicates the AML1/ETO fusion transcript (393 bp) in the patient. The hollow arrow is the internal control band.

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