Gmidène Abir, Sennana Hlima, Frikha Rim, Elloumi Moez, Belaaj Hatem, Saad Ali
Laboratoire de cytogénétique et de biologie de la reproduction, CHU Farhat Hached, Sousse, Tunisie.
Ann Biol Clin (Paris). 2012 Mar-Apr;70(2):213-6. doi: 10.1684/abc.2012.0691.
Variant forms of the classic translocation t(8;21) are uncommon and account approximately 3% of all t(8;21)(q22;q22) in acute myeloid leukemia (AML) patients. These forms involve chromosomes 8, 21, and other chromosomes. Here we report a Tunisian patient with a complex rearrangement t(21;8;1)(q22;q22;q32) revealed by conventional chromosomal study at diagnosis. Fluorescence in situ hybridization study revealed the presence of the AML1-ETO chimeric gene on the derivative chromosome 8. To the best of our knowledge, this is the second case of t(21;8;1) of AML-M2 reported in the literature with the involvement of the same breakpoint at 1q32. This illustrates that this complex translocation is rarely encountered in AML and reinforces the fact that this region may harbour a critical gene candidate that may play an important role in the pathogenesis of AML. More cases are needed to elucidate its clinical features and prognosis.
经典易位t(8;21)的变异形式并不常见，约占急性髓系白血病（AML）患者中所有t(8;21)(q22;q22)的3%。这些形式涉及8号、21号染色体以及其他染色体。在此，我们报告1例突尼斯患者，诊断时通过传统染色体研究发现其存在复杂重排t(21;8;1)(q22;q22;q32)。荧光原位杂交研究显示在衍生8号染色体上存在AML1-ETO嵌合基因。据我们所知，这是文献中报道的第2例AML-M2的t(21;8;1)，涉及1q32处相同的断点。这表明这种复杂易位在AML中很少见，并强化了这样一个事实，即该区域可能含有一个关键候选基因，其可能在AML发病机制中起重要作用。需要更多病例来阐明其临床特征和预后。
