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

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 R...

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Published inLaboratory Medicine Online Vol. 13; no. 1; pp. 22 - 26
Main Authors Choi, Heekang, Kim, Hongkyung, Kim, Hye Min, Lee, Seungjae, Kim, Jin Ju, Shin, Saeam
Format Journal Article
LanguageEnglish
Published 대한진단검사의학회 01.01.2023
Subjects
임상병리학
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ISSN2093-6338
2093-6338
DOI10.47429/lmo.2023.13.1.22

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Summary: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. KCI Citation Count: 0
Bibliography:https://doi.org/10.47429/lmo.2023.13.1.22
ISSN:2093-6338
2093-6338
DOI:10.47429/lmo.2023.13.1.22