Lab Med Online.  2023 Jan;13(1):22-26. 10.47429/lmo.2023.13.1.22.

Aggressive NK Cell Leukemia with RAB29-NUCKS1 Gene Rearrangement: A Case Report

• Choi H
• Kim H
• Kim HM
• Lee S
• Kim JJ
• Shin S

• KMID: 2552719
• DOI: http://doi.org/10.47429/lmo.2023.13.1.22

Abstract

Aggressive natural killer (NK) cell leukemia (ANKL) is a rare form of leukemia that may be accompanied by various chromosomal abnormalities such as del(6)(q21q25) or del(11q). Here, we describe a case of a patient with ANKL and an RAB29-NUCKS1 rearrangement that has never been described before. An RNA fusion panel test found a gene fusion between exon 5 of RAB29 and exon 2 of NUCKS1 at chromosome 1q32.1. Additionally, reverse-transcription polymerase chain reaction and Sanger sequencing confirmed cryptic RAB29-NUCKS1 fusion. RAB29 encodes a protein that regulates exocytic and endocytic pathways. NUCKS1 encodes a chromatin-associated protein involved in DNA damage responses. Further studies will be necessary to understand the molecular pathogenesis of ANKL related to an RAB29-NUCKS1 rearrangement.

Keyword

Aggressive NK cell leukemia; RAB29; NUCKS1; Gene rearrangement

Figure

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  Fig. 1 Peripheral blood smear and bone marrow findings and genetic test results of the patient. (A) Abnormal cells resembling large granular lymphocytes (Wright-Giemsa stain, ×1,000). (B) Abnormal cells with irregular nuclear folding, clumped chromatin, distinct nucleoli, and lightly basophilic cytoplasm containing azurophilic granules in the bone marrow aspiration smear (Wright-Giemsa stain, ×1,000). Proliferation of neoplastic cells showing positive staining for (C) CD56 (×200) and (D) granzyme B (×200) in the bone marrow biopsy section. (E) G-banded karyogram showing 46,XY,t(5;7)(p15.3;q11.2). (F) RAB29-NUCKS1 gene rearrangement detected in the RNA fusion panel test. (G) Identification of the gene fusion breakpoint between exon 5 of the RAB29 gene (reference transcript: NM_003929.2) and exon 2 of the NUCKS1 gene (NM_022731.4) by using Sanger sequencing.

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  Fig. 2 Flow cytometry findings of the patient. Abnormal lymphoid cells highlighted in red exhibited the CD3-, cCD3 dim+, CD5-, CD7+, CD8+, CD16+, and CD56+ phenotypes at diagnosis. Abbreviations: cCD3, cytoplasmic CD3; SSC, side scatter.

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