De novo acute myeloid leukemia subtype-M4 with initial trisomy 8 and later acquired t(3;12)(q26;p12) leading to ETV6/MDS1/EVI1 fusion transcript expression: A case report
De novo acute myeloid leukemia subtype-M4 with initial trisomy 8 and later acquired t(3;12)(q26;p12) leading to ETV6/MDS1/EVI1 fusion transcript expression: A case report
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DOI：
10.3892/ol.2014.1784
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发表时间：
2014-03-01
期刊：
影响因子：
2.9
通讯作者：
Wafa, Abdulsamad
中科院分区：
文献类型：
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作者：
Al Achkar, Walid;Aljapawe, Abdulmunim;Wafa, Abdulsamad
t(3;12)(q26;p13) 易位是在骨髓恶性肿瘤中观察到的一种复发性染色体畸变。该易位导致 ETV6/骨髓增生异常综合征 1 (MDS1)/异位病毒整合位点 1 (EVI1) 融合基因的产生。然而，本病例报告首次介绍了急性髓性白血病 (AML)-M4 中的这种重排。值得注意的是，该病例是首例具有初始 8 三体性和继发性 t(3;12)(q26;p13) 的 AML-M4 报告。发现含有t(3;12)易位的细胞比纯8三体细胞表现出更高的增殖能力，这与ETV6/MDS1/EVI1融合转录本在恶性肿瘤发生和进展中的作用一致。
The t(3;12)(q26;p13) translocation is a recurrent chromosomal aberration observed in myeloid malignancies. The translocation results in the generation of the ETV6/myelodysplastic syndrome 1 (MDS1)/ectopic viral integration site 1 (EVI1) fusion gene. However, the present case report is the first to present this rearrangement in acute myelogeneous leukemia (AML)-M4. Notably, this case is the first report of AML-M4 with an initial trisomy 8 and secondary acquired t(3;12)(q26;p13). Cells harboring the t(3;12) translocation were found to exhibit a higher proliferative capacity than cells with pure trisomy 8, which is consistent with the role of the ETV6/MDS1/EVI1 fusion transcript in the development and progression of malignancy.