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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2023.1
- 수록면
- 22 - 26 (5page)
- DOI
- 10.47429/lmo.2023.13.1.22
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초록· 키워드
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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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