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RAB29-NUCKS1 유전자재배열을 동반한 공격성NK세포백혈병: 증례보고
DC Field | Value | Language |
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dc.contributor.author | 김진주 | - |
dc.contributor.author | 김혜민 | - |
dc.contributor.author | 신새암 | - |
dc.contributor.author | 김홍경 | - |
dc.date.accessioned | 2023-03-22T02:09:27Z | - |
dc.date.available | 2023-03-22T02:09:27Z | - |
dc.date.issued | 2023-01 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/193539 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | Korean | - |
dc.publisher | Korean Society for Laboratory Medicine | - |
dc.relation.isPartOf | Laboratory Medicine Online | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | RAB29-NUCKS1 유전자재배열을 동반한 공격성NK세포백혈병: 증례보고 | - |
dc.title.alternative | Aggressive NK Cell Leukemia with RAB29-NUCKS1 Gene Rearrangement: A Case Report | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Heekang Choi | - |
dc.contributor.googleauthor | Hongkyung Kim | - |
dc.contributor.googleauthor | Hye Min Kim | - |
dc.contributor.googleauthor | Seungjae Lee | - |
dc.contributor.googleauthor | Jin Ju Kim | - |
dc.contributor.googleauthor | Saeam Shin | - |
dc.identifier.doi | 10.47429/lmo.2023.13.1.22 | - |
dc.contributor.localId | A06208 | - |
dc.contributor.localId | A04553 | - |
dc.contributor.localId | A02108 | - |
dc.relation.journalcode | J02151 | - |
dc.identifier.eissn | 2093-6338 | - |
dc.subject.keyword | Aggressive NK cell leukemia | - |
dc.subject.keyword | RAB29, NUCKS1 | - |
dc.subject.keyword | Gene rearrangement | - |
dc.contributor.alternativeName | Kim, Jin Ju | - |
dc.contributor.affiliatedAuthor | 김진주 | - |
dc.contributor.affiliatedAuthor | 김혜민 | - |
dc.contributor.affiliatedAuthor | 신새암 | - |
dc.citation.volume | 13 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 22 | - |
dc.citation.endPage | 26 | - |
dc.identifier.bibliographicCitation | Laboratory Medicine Online, Vol.13(1) : 22-26, 2023-01 | - |
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