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KMID : 1100820230130010022
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Laboratory Medicine Online
2023 Volume.13 No. 1 p.22 ~ p.26
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Aggressive NK Cell Leukemia with RAB29-NUCKS1 Gene Rearrangement: A Case Report
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Choi Hee-Kang
Kim Hong-Kyung
Kim Hye-Min
Lee Seung-Jae
Kim Jin-Ju
Shin Sae-Am
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Abstract
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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.
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KEYWORD
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Aggressive NK cell leukemia, RAB29, NUCKS1, Gene rearrangement
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