ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia
ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia
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DOI：
10.1016/j.cancergencyto.2010.07.121
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发表时间：
2010-10-01
影响因子：
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通讯作者：
Miyawaki, Toshio
中科院分区：
文献类型：
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作者：
Otsubo, Keisuke;Kanegane, Hirokazu;Miyawaki, Toshio
ETS变异基因6（ETV 6）基因位于12 p13，在多种人类肿瘤中经常参与易位，导致ETV 6氨基端部分与无关转录因子或蛋白酪氨酸激酶组成的融合蛋白表达。白血病伴t（1; 12）（q21; p13）之前在一名患有急性成髓细胞白血病（AML-M2）的5岁男孩中被描述，该男孩表现出一种新的ETV 6-芳烃受体核转运蛋白（ARNT）融合蛋白。我们在此报告一个2岁男孩的情况下，T细胞淋巴母细胞白血病（T-ALL）窝藏t（1;12）（q21;p13）。用ETV 6双色DNA探针进行荧光原位杂交（FISH），发现96.7%的骨髓细胞中ETV 6基因出现分裂信号，表明ETV 6基因发生了重排。因此，我们用细菌人工染色体（BAC）探针进行了FISH分析，这些探针包含位于1 q21的ARNT，BCL 9和MLLTI 1基因，这些结果表明ARNT基因可能参与t（1;12）（q21;p13）。逆转录酶-聚合酶链反应分析揭示了ETV 6-ARNT融合基因的存在。据我们所知，目前的报告在儿童T-ALL中ETV 6-ARNT融合的报告中是新颖的。ETV 6 ARNT融合不仅与AML相关，还与T-ALL相关。(C)2010年爱思唯尔公司All rights reserved.
The ETS variant gene 6 (ETV6) gene is located at 12p13, and is frequently involved in translocations in various human neoplasms, resulting in the expression of fusion proteins consisting of the amino-terminal part of ETV6 and unrelated transcription factors or protein tyrosine kinases. Leukemia with t(1;12)(q21;p13) was previously described in a 5-year-old boy with acute myeloblastic leukemia (AML-M2) who exhibited a novel ETV6-aryl hydrocarbon receptor nuclear translocator (ARNT) fusion protein. We herein report the case of a 2-year-old boy with T-cell lymphoblastic leukemia (T-ALL) harboring t(1;12)(q21;p13). Fluorescence in situ hybridization (FISH) with a ETV6 dual-color DNA probe revealed that the split signals of the ETV6 gene in 96.7% of bone marrow cells, indicating rearrangement of the ETV6 gene. Therefore, we performed a FISH analysis with bacterial artificial chromosome (BAC) probes containing the ARNT, BCL9, and MLLTI1 genes located at 1q21, and these results indicated that the ARNT gene might be involved in the t(1;12)(q21;p13). Reverse transcriptase-polymerase chain reaction analysis disclosed the existence of a ETV6-ARNT fusion gene. To our knowledge, the current report is novel in its report of the ETV6-ARNT fusion in childhood T-ALL. The ETV6 ARNT fusion is associated not only with AML but also with T-ALL. (C) 2010 Elsevier Inc. All rights reserved.