Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P
Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven, Belgium.
Blood. 1999 Sep 1;94(5):1820-4.
The ETV6 gene (also known as TEL) is the main target of chromosomal translocations affecting chromosome band 12p13. The rearrangements fuse ETV6 to a wide variety of partner genes in both myeloid and lymphoid malignancies. We report here 4 new cases of acute myeloid leukemia (AML) with very immature myeloblasts (French-American-British [FAB]-M0) and with a t(4;12)(q11-q12;p13). In all cases, ETV6 was found recombined to a new gene, homologous to the mouse Brx gene. The gene was named BTL (Brx-like Translocated in Leukemia). Reverse transcriptase-polymerase chain reaction (RT-PCR) experiments indicate that the expression of the BTL-ETV6 transcript, but not of the reciprocal ETV6-BTL transcript, is a common finding in these leukemias. In contrast to the majority of other ETV6 fusions, both the complete helix-loop-helix (HLH) and ETS DNA binding domains of ETV6 are present in the predicted BTL-ETV6 fusion protein, and the chimeric gene is transcribed from the BTL promoter.
ETV6基因（也称为TEL）是影响染色体带12p13的染色体易位的主要靶点。在髓系和淋巴系恶性肿瘤中，这些重排将ETV6与多种伙伴基因融合。我们在此报告4例急性髓系白血病（AML）新病例，其具有非常幼稚的成髓细胞（法美英[FAB]-M0）且伴有t(4;12)(q11-q12;p13)。在所有病例中，发现ETV6与一个新基因重组，该基因与小鼠Brx基因同源。该基因被命名为BTL（白血病中易位的类Brx基因）。逆转录聚合酶链反应（RT-PCR）实验表明，BTL-ETV6转录本的表达而非相互的ETV6-BTL转录本的表达在这些白血病中是常见现象。与大多数其他ETV6融合不同，ETV6完整的螺旋-环-螺旋（HLH）和ETS DNA结合结构域存在于预测的BTL-ETV6融合蛋白中，并且嵌合基因从BTL启动子转录。
