Aggressive NK Cell Leukemia with RAB29-NUCKS1 Gene Rearrangement: A Case Report
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
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.
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.
참고문헌 (18)
- Ruskova A, "Aggressive natural killer-cell leukemia : report of five cases and review of the literature", Leuk Lymphoma, 45, pp.2427~2438 (2004)
- Park S, "Epstein-Barr virus-associated T", natural killer-cell lymphoproliferative disorders, 2014, pp.41, 29~39
- Ryder J, "Aggressive natural killer cell leukemia : report of a Chinese series and review of the literature", Int J Hematol, 85, pp.18~25 (2007)
- Yang L, "DNMT3A in haematological malignancies", Nat Rev Cancer, 15, pp.152~165 (2015)
- Hutchens C, "When are apparently non-clonal abnormalities in bone marrow chromosome studies actually clonal?", Cancer Genet, 205, pp.405~409 (2012)
- Suzuki R, "Aggressive natural killer-cell leukemia revisited : large granular lymphocyte leukemia of cytotoxic NK cells", Leukemia, 18, pp.763~770 (2004)
- Heyer EE, "Diagnosis of fusion genes using targeted RNA sequencing", Nat Commun, 10, pp.1388~ (2019)
- Singh S, "The landscape of chimeric RNAs in non-diseased tissues and cells", Nucleic Acids Res, 48, pp.1764~1778 (2020)
- Biernaux C, "Detection of major bcr-abl gene expression at a very low level in blood cells of some healthy individuals", Blood, 86, pp.3118~3122 (1995)
- Bose S, "The presence of typical and atypical BCR-ABL fusion genes in leukocytes of normal individuals : biologic significance and implications for the assessment of minimal residual disease", Blood, 92, pp.3362~3367 (1998)
- Oh S, "Enhancer release and retargeting activates disease-susceptibility genes", Nature, 595, pp.735~740 (2021)
- Hutagalung AH, "Role of Rab GTPases in membrane traffic and cell physiology", Physiol Rev, 91, pp.119~149 (2011)
- Wang S, "A role of Rab29 in the integrity of the trans-Golgi network and retrograde trafficking of mannose-6-phosphate receptor", PLoS One, 9, pp.e96242~ (2014)
- Gary-Bobo M, "Mannose 6-pho-sphate receptor targeting and its applications in human diseases", Curr Med Chem, 14, pp.2945~2953 (2007)
- Abdoli Z, "Leukemia inhibitory factor suppresses NKG2D mRNA expression and presentation on human natural killer cells", Iran J Allergy Asthma Immunol, 20, pp.98~105 (2021)
- Parplys AC, "NUCKS1 is a novel RAD51AP1 paralog important for homologous recombination and genome stability", Nucleic Acids Res, 43, pp.9817~9834 (2015)
- Huang P, "Roles of NUCKS1 in diseases : Susceptibility, potential biomarker, and regulatory mechanisms", Biomed Res Int, 2018, pp.7969068~ (2018)
- Frattini V, "The integrated landscape of driver genomic alterations in glioblastoma", Nat Genet, 45, pp.1141~1149 (2013)