NUP98-NSD1 Fusion in Association with FLT3-ITD Mutation Identifies a Prognostically Relevant Subgroup of Pediatric Acute Myeloid Leukemia Patients Suitable for Monitoring by Real Time Quantitative PCR
NUP98-NSD1 Fusion in Association with FLT3-ITD Mutation Identifies a Prognostically Relevant Subgroup of Pediatric Acute Myeloid Leukemia Patients Suitable for Monitoring by Real Time Quantitative PCR
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DOI：
10.1002/gcc.22100
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发表时间：
2013-11-01
影响因子：
3.7
通讯作者：
Griffiths, Michael
中科院分区：
文献类型：
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作者：
Akiki, Susanna;Dyer, Sara A.;Griffiths, Michael
细胞遗传学上隐匿的t(5；11)(q35；p15)导致NUP98-NSD1融合是一种罕见但反复发生的基因重排，最近报道用于识别一组预后不良的年轻AML患者。我们使用逆转录聚合酶链式反应(RT-PCR)对54例未经选择的儿童AML患者进行了回顾性诊断样本的筛选，并设计了一种实时定量PCR方法来跟踪单个患者对治疗的反应。确认了4例阳性病例(7%)；3例出现从头开始，1例与治疗有关。所有患者都有中等风险的细胞遗传学标记和同时存在的Flt3-ITD，但缺乏NPM1和CEBPA突变。这些患者对治疗的反应很差，都进行了造血干细胞移植。这些数据支持在没有其他有利遗传标记的儿童AML中采用NUP98-NSD1筛查。定量聚合酶链式反应的作用也被强调为治疗后管理NUP98-NSD1阳性患者的一种潜在工具。(C)2013年威利期刊公司。
The cytogenetically cryptic t(5;11)(q35;p15) leading to the NUP98-NSD1 fusion is a rare but recurrent gene rearrangement recently reported to identify a group of young AML patients with poor prognosis. We used reverse transcription polymerase chain reaction (PCR) to screen retrospectively diagnostic samples from 54 unselected pediatric AML patients and designed a real time quantitative PCR assay to track individual patient response to treatment. Four positive cases (7%) were identified; three arising de novo and one therapy related AML. All had intermediate risk cytogenetic markers and a concurrent FLT3-ITD but lacked NPM1 and CEBPA mutations. The patients had a poor response to therapy and all proceeded to hematopoietic stem cell transplant. These data lend support to the adoption of screening for NUP98-NSD1 in pediatric AML without otherwise favorable genetic markers. The role of quantitative PCR is also highlighted as a potential tool for managing NUP98-NSD1 positive patients post-treatment. (c) 2013 Wiley Periodicals, Inc.