A Case of Masked t(8;21) in Acute Myeloid Leukemia with Cytogenetic Abnormality of 45,X,-Y,t(8;17)(q22;p13)

Hyeok Shim; Young-Jin Lee

doi:10.3343/lmo.2011.1.3.8

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Shim and Lee: A Case of Masked t(8;21) in Acute Myeloid Leukemia with Cytogenetic Abnormality of 45,X,-Y,t(8;17)(q22;p13)

Case Report

Diagnostic Hematology

Laboratory Medicine Online

Laboratory Medicine Online 2011; 1(3): 168-171.

Published online: 5 July 2011

DOI: https://doi.org/10.3343/lmo.2011.1.3.8

A Case of Masked t(8;21) in Acute Myeloid Leukemia with Cytogenetic Abnormality of 45,X,-Y,t(8;17)(q22;p13)

Hyeok Shim, M.D.², Young-Jin Lee, M.D.^1,³

¹Department of Laboratory Medicine, Wonkwang University School of Medicine, Iksan, Korea.

²Department of Internal Medicine, Wonkwang University School of Medicine, Iksan, Korea.

³Institute of Wonkwang Medical Science, Wonkwang University School of Medicine, Iksan, Korea.

Corresponding author: Young Jin Lee, M.D. Department of Laboratory Medicine, Wonkwang University School of Medicine, 895 Muwang-ro, Iksan 570-711, Korea. Tel: +82-63-859-1862, Fax: +82-63-842-3786, jin20@wku.ac.kr

Received 26 May 2011 Revised 13 June 2011 Accepted 13 June 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

The t(8;21)(q22;q22) is one of the most frequent structural chromosomal anomaly found in AML, occurring in about 5% of all AML and in 10% of AML with maturation (M2). And approximately 3.4% of AML with t(8;21)(q22;q22) occurs as a complex chromosomal abnormality and occasionally shows discrepancy between cytogenetic and molecular genetic analyses. We report a case of 42 yr old male patient that revealed morphological characteristics of AML-M2 and karyotypic abnormality of 45,X,-Y,t(8;17)(q22;p13) without visible involvement of chromosome 21 by conventional cytogenetic study with masked t(8;21) identified by FISH using RUNX1/RUNX1T1 probes. FISH confirmed nuc ish (RUNX1T1x3),(RUNX1x3), (RUNX1T1 con RUNX1x1). According to the results of conventional cytogenetic and FISH analyses, the karyotype was revised to 45,X,-Y,t(8;17;21)(q22;p13;q22).

Keywords: AML-M2, Masked t(8;21), t(8;17;21)(q22;p13;q22)

Figures and Tables

Fig. 1

The blasts in (A) peripheral blood smear containing single Auer rod and in (B) bone marrow aspirate smear (Wright-Giemsa stain, ×1,000). They reveal large sized, round shaped nuclei with prominent nucleoli and moderate to abundant cytoplasm with azurophilic granules.

Fig. 2

The G-banded karyotype of the metaphases analyzed in the patient's bone marrow cells shows 45,X,-Y,t(8;17)(q22;p13). Arrows indicate abnormal chromosomes.

Fig. 3

FISH analysis for an RUNX1/RUNX1T1 probe. Interphase FISH shows an abnormal pattern of three-way variant translocation with two green signals (RUNX1), two red signals (RUNX1T1), and one yellow fusion signal in 98% of the nuclei examined.

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