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一例融合相关急性巨核细胞白血病病例。

A case of fusion-associated acute megakaryoblastic leukemia.

作者信息

Forlenza Christopher J, Zhang Yanming, Yao JinJuan, Benayed Ryma, Steinherz Peter, Ramaswamy Kavitha, Kessel Rachel, Roshal Mikhail, Shukla Neerav

机构信息

Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.

出版信息

Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6). doi: 10.1101/mcs.a003426. Print 2018 Dec.

Abstract

Acute megakaryoblastic leukemia (AMKL) constitutes ∼5%-15% of cases of non-Down syndrome AML in children, and in the majority of cases, chimeric oncogenes resulting from recurrent gene rearrangements are identified. Based on these rearrangements, several molecular subsets have been characterized providing important prognostic information. One such subset includes a group of patients with translocations involving the gene, which has been associated with various fusion partners in patients with AMKL. Here we report the molecular findings of a 2-yr-old girl with AMKL and t(11;17)(q23;25) found to have a fusion identified through targeted RNA sequencing. A fusion in this subset of patients has not previously been reported.

摘要

急性巨核细胞白血病(AMKL)占儿童非唐氏综合征急性髓系白血病(AML)病例的5% - 15%,在大多数病例中,可鉴定出由反复基因重排产生的嵌合致癌基因。基于这些重排,已对几个分子亚群进行了表征,提供了重要的预后信息。其中一个亚群包括一组涉及 基因易位的患者,该基因在AMKL患者中与多种融合伴侣相关。在此,我们报告一名2岁AMKL女童的分子研究结果,该女童存在t(11;17)(q23;25),通过靶向RNA测序发现其具有 融合。此前尚未报道过该患者亚群中的 融合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5025/6318764/06a182aece46/MCS003426For_F1.jpg

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