急性髓系白血病中一种新鉴定的 ETV6-NTRK3 融合转录本的特征。
Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia.
机构信息
Laboratory of Molecular Biology and Tumorcytogenetics, Department of Internal Medicine I, Krankenhaus der Barmherzigen Schwestern, Seilerstaette 4, 4010 Linz, Austria.
出版信息
Diagn Pathol. 2011 Mar 15;6:19. doi: 10.1186/1746-1596-6-19.
BACKGROUND
Characterization of novel fusion genes in acute leukemia is important for gaining information about leukemia genesis. We describe the characterization of a new ETV6 fusion gene in acute myeloid leukemia (AML) FAB M0 as a result of an uncommon translocation involving chromosomes 12 and 15.
METHODS
The ETV6 locus at 12p13 was shown to be translocated and to constitute the 5' end of the fusion product by ETV6 break apart fluorescence in situ hybridisation (FISH). To identify a fusion partner 3' rapid amplification of cDNA-ends with polymerase chain reaction (RACE PCR) was performed followed by cloning and sequencing.
RESULTS
The NTRK3 gene on chromosome 15 was found to constitute the 3' end of the fusion gene and the underlying ETV6-NTRK3 rearrangement was verified by reverse transcriptase PCR. No RNA of the reciprocal NTRK3-ETV6 fusion gene could be detected.
CONCLUSION
We have characterized a novel ETV6-NTRK3 fusion transcript which has not been previously described in AML FAB M0 by FISH and RACE PCR. ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma.
背景
在急性白血病中鉴定新型融合基因对于了解白血病的发病机制非常重要。我们描述了一种新的 ETV6 融合基因在急性髓细胞白血病（AML）FAB M0 中的特征，这是一种罕见的涉及 12 号和 15 号染色体的易位。
方法
通过 ETV6 分离荧光原位杂交（FISH）显示 12p13 处的 ETV6 基因座易位并构成融合产物的 5'端。为了鉴定融合伙伴，通过 3' 端快速扩增 cDNA-末端的聚合酶链反应（RACE-PCR）进行，然后进行克隆和测序。
结果
发现染色体 15 上的 NTRK3 基因构成融合基因的 3' 端，通过逆转录 PCR 验证了潜在的 ETV6-NTRK3 重排。未检测到相应的 NTRK3-ETV6 融合基因的 RNA。
结论
我们通过 FISH 和 RACE-PCR 鉴定了一种新型的 ETV6-NTRK3 融合转录本，以前在 AML FAB M0 中尚未描述过。ETV6-NTRK3 重排已在分泌性乳腺癌和先天性纤维肉瘤中描述过。
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