Impera Luciana, Daniele Giulia, Marra Luisa, Baldazzi Carmen, Iacobucci Ilaria, Martinelli Giovanni, Testoni Nicoletta, Storlazzi Clelia Tiziana
Department of Biology, University of Bari;
Hematol Rep. 2012 Nov 19;4(4):e27. doi: 10.4081/hr.2012.e27. Epub 2012 Dec 11.
We describe a case of acute myeloid leukemia M5 showing a balanced t(2;10) (q31;p12) translocation. This has never been described before as the sole cytogenetic abnormality in a bone marrow cell clone at onset. Using fluorescence in situ hybridization with properly designed bacterial artificial chromosome probes, we mapped the breakpoint regions on both derivative chromosomes 2 and 10: der(2) and der(10), respectively. The MPP7 gene, disrupted by the breakpoint on chromosome 10, was juxtaposed upstream of both HNRNA3 and NFE2L2 genes on chromosome 2, without the formation of any fusion gene. Using real-time quantitative polymerase chain reaction, we tested the possible disregulation of any of the breakpoint-associated genes as a consequence of the translocation, but we found no statistically significant alteration. Considering the potential role of this clonal cytogenetic abnormality in leukemogenesis, we speculate that this translocation could have an impact on additional genes mapping outside the breakpoint regions. However, the limited amount of RNA material available prevented us from testing this hypothesis in this present case.
我们描述了一例急性髓系白血病M5，其显示出平衡的t(2;10)(q31;p12)易位。此前从未有过将此作为骨髓细胞克隆起始时唯一细胞遗传学异常的报道。使用经适当设计的细菌人工染色体探针进行荧光原位杂交，我们分别在2号和10号衍生染色体（der(2)和der(10)）上定位了断点区域。被10号染色体上的断点破坏的MPP7基因，并列于2号染色体上的HNRNA3和NFE2L2基因上游，未形成任何融合基因。使用实时定量聚合酶链反应，我们检测了由于易位导致的任何断点相关基因可能的失调情况，但未发现有统计学意义的改变。考虑到这种克隆性细胞遗传学异常在白血病发生中的潜在作用，我们推测这种易位可能会影响位于断点区域之外的其他基因。然而，可用的RNA材料数量有限，使我们无法在本病例中验证这一假设。
