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由V617F突变的原发性骨髓纤维化转化而来的重排型急性髓系白血病。

rearranged acute myeloid leukemia transformed from V617F mutated primary myelofibrosis.

作者信息

Han Lina, Koduru Prasad, Cantu Miguel, Fuda Franklin, Chen Weina

机构信息

Department of Pathology University of Texas Southwestern Medical Center Dallas Texas USA.

出版信息

EJHaem. 2024 Oct 29;5(6):1330-1334. doi: 10.1002/jha2.985. eCollection 2024 Dec.

DOI:10.1002/jha2.985
PMID:39691258
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11647693/
Abstract

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

摘要

具有[具体融合情况未提及]融合的急性髓系白血病(AML)较为罕见,其临床病理特征和基因组特征在很大程度上尚不明确。我们报告了1例由V617F突变的原发性骨髓纤维化转化而来的AML病例,并对该主题的文献进行了综述。具有[具体融合情况未提及]的AML的免疫表型和协同基因改变情况与具有[具体情况未提及]的AML相似,包括CD19表达、信号通路([具体通路未提及])、表观遗传/染色质和细胞周期调控([具体基因未提及]、[具体基因未提及]和[具体基因未提及])中的协同基因改变,以及其他染色体异常(8号和15号染色体三体)。本病例研究为这种罕见亚型AML的发病机制提供了见解。

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