RAB29-NUCKS1 유전자재배열을 동반한 공격성NK세포백혈병: 증례보고

초록

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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