Usefulness of Chromosomal Microarray in Hematologic Malignancies: A Case of Aggressive NK-cell Leukemia with 1q Abnormality

Yoo Na Chung; Ha-Nui Kim; Se-Ryeon Lee; Hwa Jung Sung; Myung-Hyun Nam

doi:10.3343/lmo.2019.9.3.189

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Chung, Kim, Lee, Sung, and Nam: Usefulness of Chromosomal Microarray in Hematologic Malignancies: A Case of Aggressive NK-cell Leukemia with 1q Abnormality

Original Article

Lab Med Online 2019;9(3):189-193.

Published online: 20 July 2019

DOI: https://doi.org/10.3343/lmo.2019.9.3.189

Usefulness of Chromosomal Microarray in Hematologic Malignancies: A Case of Aggressive NK-cell Leukemia with 1q Abnormality

Yoo Na Chung, M.D.¹, Ha-Nui Kim, M.D.¹, Se-Ryeon Lee, M.D.², Hwa Jung Sung, M.D.², Myung-Hyun Nam, M.D.^1,

¹Department of Laboratory Medicine, Korea University Medical School, Seoul, Korea

²Department of Internal Medicine, Korea University Medical School, Seoul, Korea

Corresponding author: Myung-Hyun Nam, M.D. https://orcid.org/0000-0002-8737-6902 Department of Laboratory Medicine, Korea University Ansan Hospital, 123 Jeokgeum-ro, Danwon-gu, Ansan 15355, Korea Tel: +82-31-412-5300, Fax: +82-31-412-4228, E-mail: yuret@korea.ac.kr

Received 30 August 2018 Revised 26 October 2018 Accepted 26 October 2018

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

A variety of clonal cytogenetic abnormalities have been reported in aggressive natural killer (NK)-cell lymphoma and leukemia. Recent chromosomal microarray studies have shown both gain and loss of 1q and loss of 7p as recurrent abnormalities in aggressive NK-cell leukemia. Here, we report a case of aggressive NK-cell leukemia with complex chromosomal gains and losses, as confirmed by chromosomal microarray analysis. The patient showed an aggressive clinical course, which was complicated by hemophagocytic lymphohistiocytosis. Conventional cytogenetic analysis revealed trisomy 3 and 1q gain only. However, chromosomal microarray analysis detected an additional gain of 1q21.1-q24.2 and a loss of 1q24.2-q31.3. These abnormal lesions might play a role in the pathogenesis of aggressive NK-cell leukemia by inactivating tumor suppressor genes or by activating oncogenes. These results suggest that chromosomal microarray analysis may be used to provide further genetic information for patients with hematological malignancies, including aggressive NK-cell leukemia.

Keywords: Aggressive NK-cell leukemia, Chromosomal microarray, 1q abnormality

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Fig. 1.

In the peripheral blood smear, abnormal lymphoid cells resembling large granular lymphocytes are observed (Wright stain, ×1,000).

Fig. 2.

Immunophenotype analysis of leukemic cells using flow cytometry. Gated cells are 76.2% on side scatter vs. CD45 plot. Leukemic cells are positive for CD2, CD7 and CD56 and negative for surface CD3 (Cytomics FC500, Beckmann Coulter).

Fig. 3.

Bone marrow biopsy slide showing infiltration of leukemic cells (H&E stain, ×100).

Fig. 4.

Epstein-Barr encoding region (EBER)-positive cells in bone marrow biopsy (×100).

Fig. 5.

Karyotyping and chromosomal microarray analysis. (A) The karyotypes of peripheral blood cells at diagnosis by Giemsa banding. Arrows indicate abnormal chromosomes showing trisomy 3 and der(22)t(1;22)(q21;p11.2). (B) Idiogram of chromosomal microarray showing 1q gain and loss and trisomy 3. (C) Chromosomal microarray analysis of chromosome 1 showing 1q21.2-q24.2 gain of 24 Mb and 1q24.2-q31.3 loss of 26 Mb.

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