在急性髓系白血病病例中产生5'RUNX1/3'CBFA2T1基因的插入显示出可变的断点。
Insertions generating the 5'RUNX1/3'CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints.
作者信息
Specchia Giorgina, Albano Francesco, Anelli Luisa, Zagaria Antonella, Liso Arcangelo, La Starza Roberta, Mancini Marco, Sebastio Lucia, Giugliano Emilia, Saglio Giuseppe, Liso Vincenzo, Rocchi Mariano
机构信息
Hematology, University of Foggia, Foggia, Italy.
出版信息
Genes Chromosomes Cancer. 2004 Sep;41(1):86-91. doi: 10.1002/gcc.20061.
Translocation t(8;21)(q22;q22) is a common karyotypic abnormality detected in about 15% of acute myeloid leukemia (AML) cases. The rearrangement results in fusion of the RUNX1 (also known as AML1) and CBFA2T1 (also known as ETO) genes, generating a 5'RUNX1/3'CBFA2T1 transcriptionally active fusion gene on derivative chromosome 8, but some cases with ins(21;8) and ins(8;21) have been observed. However, a detailed breakpoint characterization of the insertion events has never been reported. In the present article, we describe six insertion events among 82 (7.3%) AML cases characterized by the RUNX1/CBFA2T1 fusion. Using FISH experiments with appropriate bacterial artificial chromosome (BAC) and P1 artificial chromosome (PAC) probes, we were able to perform a detailed molecular cytogenetic characterization of one case with ins(8;21) and five with ins(21;8). Our analysis revealed that insertions generating the 5'RUNX1/3'CBFA2T1 gene showed variable breakpoints; the size of the inserted elements ranged from 2.4 to 44 Mb.
易位t(8;21)(q22;q22)是在约15%的急性髓系白血病（AML）病例中检测到的常见核型异常。这种重排导致RUNX1（也称为AML1）和CBFA2T1（也称为ETO）基因融合，在衍生染色体8上产生一个5'RUNX1/3'CBFA2T1转录活性融合基因，但也观察到一些伴有ins(21;8)和ins(8;21)的病例。然而，从未有关于插入事件详细断点特征的报道。在本文中，我们描述了82例（7.3%）以RUNX1/CBFA2T1融合为特征的AML病例中的6例插入事件。通过使用合适的细菌人工染色体（BAC）和P1人工染色体（PAC）探针进行荧光原位杂交（FISH）实验，我们能够对1例ins(8;21)和5例ins(21;8)病例进行详细的分子细胞遗传学特征分析。我们的分析表明，产生5'RUNX1/3'CBFA2T1基因的插入显示出可变的断点；插入元件的大小范围为2.4至44 Mb。
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