RUNX1::CBFA2T2 rearranged acute myeloid leukemia transformed from JAK2 V617F mutated primary myelofibrosis

EJHaem Pub Date : 2024-10-29 DOI:10.1002/jha2.985
Lina Han, Prasad Koduru, Miguel Cantu, Franklin Fuda, Weina Chen
{"title":"RUNX1::CBFA2T2 rearranged acute myeloid leukemia transformed from JAK2 V617F mutated primary myelofibrosis","authors":"Lina Han,&nbsp;Prasad Koduru,&nbsp;Miguel Cantu,&nbsp;Franklin Fuda,&nbsp;Weina Chen","doi":"10.1002/jha2.985","DOIUrl":null,"url":null,"abstract":"<p>Acute myeloid leukemia (AML) with <i>RUNX1::CBFA2T2</i> fusion is rare with largely unknown clinicopathological features and genomic characterization. We present one such case of AML transformed from <i>JAK2</i> V617F mutated primary myelofibrosis and review the literature on this topic. The immunophenotype and the landscape of cooperative gene alterations in AML with <i>RUNX1::CBFA2T2</i> resemble those of AML with <i>RUNX1::RUNX1T1</i>, including expression of CD19, cooperative gene alterations in signaling pathway (<i>JAK2</i>), epigenetic/chromatin and cell cycle regulation (<i>TET2</i>, <i>SMC3</i>, and <i>CDKN2A/B</i>), and additional chromosomal abnormalities (trisomies 8 and 15). This case study provides insights into the pathogenesis of this rare subtype of AML.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"5 6","pages":"1330-1334"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11647693/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"EJHaem","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/jha2.985","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Acute myeloid leukemia (AML) with RUNX1::CBFA2T2 fusion is rare with largely unknown clinicopathological features and genomic characterization. We present one such case of AML transformed from JAK2 V617F mutated primary myelofibrosis and review the literature on this topic. The immunophenotype and the landscape of cooperative gene alterations in AML with RUNX1::CBFA2T2 resemble those of AML with RUNX1::RUNX1T1, including expression of CD19, cooperative gene alterations in signaling pathway (JAK2), epigenetic/chromatin and cell cycle regulation (TET2, SMC3, and CDKN2A/B), and additional chromosomal abnormalities (trisomies 8 and 15). This case study provides insights into the pathogenesis of this rare subtype of AML.

Abstract Image

求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信