急性白血病M4Eo型患者ETV6基因重排及其意义

山东大学学报(医学版)

急性白血病M4Eo型患者ETV6基因重排及其意义

高娜¹,李志红²,丁卜同³，陈昀¹，汪运山³，郭农建¹

1. 山东大学附属济南市中心医院血液科，济南 250013； 2. 兖矿集团兴隆庄煤矿医院，山东兖州 272102；3. 山东大学附属济南市中心医院检验科，济南 250013

收稿日期:2007-12-15 修回日期:1900-01-01 出版日期:2008-04-16 发布日期:2008-04-16
通讯作者: 郭农建

Significance of ETV6 rearrangement in acute myelogenous leukemia-M4Eo

GAO Na¹,LI Zhi-hong²,DING Bu-tong³，CHEN Yun¹，WANG Yun-shan³，GUO Nong-jian¹

1. Department of Hematology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250012, China;2. Xinglong Colliery Hospital of Yanzhou Mining Group

Received:2007-12-15 Revised:1900-01-01 Online:2008-04-16 Published:2008-04-16
Contact: GUO Nong-jian

摘要/Abstract

摘要： 目的探讨在急性髓细胞白血病（AML）M4Eo型患者中检测到ETV6基因重排的临床意义。方法对3例AML-M4Eo患者骨髓标本进行细胞培养，制备染色体，分析核型，Split-signal FISH技术分析12p13染色体易位，RT-PCR检测ETV6/ARG融合基因产物。结果核型分析显示3例患者均有inv(16)，Split-signal FISH检出12p13染色体易位1例，RT-PCR证实患者ETV6/ARG融合基因产物阳性。这是国际上第2例报道ETV6/ARG融合基因在AML-M4Eo中表达。结论伴有ETV6/ARG融合基因的患者对化疗不敏感，预后较ETV6/ARG融合基因阴性者差。Split-signal FISH是检测ETV6基因重排准确可靠的手段。

Abstract: To explore the clinical significance of ETV6 gene rearrangement involved in acute myelogenous leukemia M4Eo. Methods3 cases of AML -M4Eo were prepared the chromosome after the bone marrow cells culture. R-banding technique was used to analyze the karotypes. 12p13 translocation was determined by Split-signal FISH in the interphase and metaphase cells. ETV6/ARG fusion genes were analyzed by RT-PCR. ResultsClone chromosomal abnormalities with inv(16) was found by Karotype analysis in 3 cases, abnormal fluorescence signal with 12p13 translocation was found in 1 case by split-signal FISH, and ETV6/ARG fusion gene was found by RT-PCR. This was the second report that ETV6/ARG expressed in AML－M4Eo. ConclusionThis patient is not sensitive to chemical therapy, even has worse prognosis than patient without this fusion gene. Splitsignal FISH is a reliable measure to detect ETV6 gene rearrangement.

Key words: Leukemia, ETV6, In situ hybridization, RT-PCR

中图分类号:

R557+.3

高娜,李志红,丁卜同,陈昀,汪运山,郭农建 . 急性白血病M4Eo型患者ETV6基因重排及其意义[J]. 山东大学学报(医学版), 2008, 46(4): 385-388.

GAO Na,LI Zhi-hong,DING Bu-tong,CHEN Yun,WANG Yun-shan,GUO Nong-jian. Significance of ETV6 rearrangement in acute myelogenous leukemia-M4Eo[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2008, 46(4): 385-388.

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