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ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia.

机译:ETV6-ARNT融合治疗儿童T淋巴细胞白血病。

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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 MLLT11 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.
机译:ETS变异基因6(ETV6)基因位于12p13,经常参与各种人类肿瘤的易位,导致融合蛋白的表达,该融合蛋白由ETV6的氨基末端部分和无关的转录因子或蛋白酪氨酸激酶组成。先前在一个5岁的急性粒细胞白血病(AML-M2)男孩中描述了t(1; 12)(q21; p13)白血病,该男孩表现出新型的ETV6-芳烃受体核转运蛋白(ARNT)融合蛋白。我们在这里报告了一个2岁男孩的T细胞淋巴母细胞性白血病(T-ALL)携带t(1; 12)(q21; p13)的病例。与ETV6双色DNA探针的荧光原位杂交(FISH)显示,在99.6%的骨髓细胞中ETV6基因的分裂信号表明ETV6基因发生了重排。因此,我们使用细菌人工染色体(BAC)探针进行了FISH分析,该探针包含位于1q21的ARNT,BCL9和MLLT11基因,这些结果表明ARNT基因可能与t(1; 12)(q21;第13页)。逆转录酶-聚合酶链反应分析揭示了ETV6-ARNT融合基因的存在。据我们所知,本报告在儿童期T-ALL中的ETV6-ARNT融合报告中是新颖的。 ETV6-ARNT融合不仅与AML相关,而且与T-ALL相关。

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