Lab Med Online.  2019 Jul;9(3):189-193. 10.3343/lmo.2019.9.3.189.

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

Affiliations
  • 1Department of Laboratory Medicine, Korea University Medical School, Seoul, Korea. yuret@korea.ac.kr
  • 2Department of Internal Medicine, Korea University Medical School, Seoul, Korea.

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.

Keyword

Aggressive NK-cell leukemia; Chromosomal microarray; 1q abnormality

MeSH Terms

Chromosome Aberrations
Cytogenetic Analysis
Genes, Tumor Suppressor
Hematologic Neoplasms*
Humans
Leukemia*
Lymphohistiocytosis, Hemophagocytic
Lymphoma
Microarray Analysis
Oncogenes
Trisomy

Figure

  • 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.


Reference

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