Tosi S, Giudici G, Mosna G, Harbott J, Specchia G, Grosveld G, Privitera E, Kearney L, Biondi A, Cazzaniga G
Clinica Pediatrica Università di Milano, Ospedale S. Gerardo, Italy.
Genes Chromosomes Cancer. 1998 Mar;21(3):223-9.
Several partner genes on different chromosomes have been reported to be fused with the ETV6 gene (located in chromosome band 12p13), with different breakpoints and different frequencies, in various hematologic malignancies, particularly acute myeloid and lymphoid leukemias and myelodysplastic syndromes. By using FISH and molecular analyses, we have analyzed five different pediatric and adult patients carrying cytogenetic abnormalities involving 12p13. Our findings demonstrate that ETV6 was rearranged in all the cases analyzed. In particular, ETV6 was disrupted by translocations with chromosomal bands 7q22, 7q36, 9q11, and 13q12, not previously described as partners of ETV6 in translocations, thus extending its promiscuity in rearranging with different partner genes.
据报道，在不同染色体上的几个伙伴基因与ETV6基因（位于12p13染色体带）融合，在各种血液系统恶性肿瘤中，特别是急性髓系和淋巴细胞白血病以及骨髓增生异常综合征中，具有不同的断点和不同的频率。通过使用荧光原位杂交（FISH）和分子分析，我们分析了5例涉及12p13细胞遗传学异常的不同儿科和成人患者。我们的研究结果表明，在所有分析的病例中ETV6都发生了重排。特别是，ETV6因与7q22、7q36、9q11和13q12染色体带易位而中断，这些染色体带以前未被描述为易位中ETV6的伙伴，从而扩展了其与不同伙伴基因重排的杂乱性。
