Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia

Gyun Cheol Park; Eun Hae Cho; Sung Ho Kang; Sook Jin Jang; Dae Soo Moon; Geon Park

doi:10.3343/lmo.2016.6.4.246

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Park, Cho, Kang, Jang, Moon, and Park: Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia

Case Report

Laboratory Medicine Online 2016; 6(4): 246-249.

Published online: 1 October 2016

DOI: https://doi.org/10.3343/lmo.2016.6.4.246

Two Concurrent Chromosomal Aberrations Involving Three-way t(3;21;8)(p21;q22;q22) and Two-way t(2;11)(q31;p15) Translocations in a Case of de novo Acute Myeloid Leukemia

Gyun Cheol Park, M.D.¹, Eun Hae Cho, M.D.², Sung Ho Kang, M.D.¹, Sook Jin Jang, M.D.¹, Dae Soo Moon, M.D.¹, Geon Park, M.D.¹

¹Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, Korea.

²Green Cross Genome, Yongin, Korea.

Corresponding author: Geon Park. Department of Laboratory Medicine, Chosun University College of Medicine, 365 Pilmun-daero, Dong-gu, Gwangju 61453, Korea. Tel: +82-62-220-3272, Fax:+82-62-232-2063, creatgeon@chosun.ac.kr

Received 5 August 2015 Revised 15 October 2015 Accepted 16 October 2015

(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/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

One of the most frequent structural chromosomal anomaly is t(8;21)(q22;q22) that occurs in approximately 5-15% of all acute myeloid leukemia (AML). However, t(3;21)(p21;q22) and t(2;11)(q31;p15) translocations are rarely reported in AML. Here, we report a unique case of AML with two translocations, t(3;21;8)(p21;q22;q22) and t(2;11)(q31;p15). Using multiplex reverse transcription polymerase chain reaction, we identified a RUNX1-RUNX1T1 fusion gene. Following a second relapse, the patient did not respond to therapy and died 55 months following the first diagnosis. We believe that this is the first case describing concurrent chromosomal aberrations involving three-way t(3;21;8) and two-way t(2;11) translocations in de novo acute myeloid leukemia.

Keywords: Acute myeloid leukemia, RUNX1-RUNX1T1, Variant translocation

Figures and Tables

Fig. 1

G-banded karyotype and ideogram of the patient's bone marrow cells shows 45,X,-X,t(3;21;8)(p21;q22;q22),t(2;11)(q31;p15).

Fig. 2

(A) Identification of RUNX1-RUNX1T1 fusion transcript by multiplex RT-PCR. Amplification products of 8 parallel multiplex RT-PCR reactions. (B) Corresponding split-out reactions. The arrow indicates the RUNX1-RUNX1T1 fusion transcript (197 bp).

Notes

This article is available from http://www.labmedonline.org

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