Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
Oncohematology, Department of Women's and Children's Health, University of Padova, Padova, Italy;
Blood. 2014 Dec 4;124(24):3577-82. doi: 10.1182/blood-2014-06-578856. Epub 2014 Sep 30.
MYC translocations represent a genetic subtype of T-lineage acute lymphoblastic leukemia (T-ALL), which occurs at an incidence of ∼6%, assessed within a cohort of 196 T-ALL patients (64 adults and 132 children). The translocations were of 2 types; those rearranged with the T-cell receptor loci and those with other partners. MYC translocations were significantly associated with the TAL/LMO subtype of T-ALL (P = .018) and trisomies 6 (P < .001) and 7 (P < .001). Within the TAL/LMO subtype, gene expression profiling identified 148 differentially expressed genes between patients with and without MYC translocations; specifically, 77 were upregulated and 71 downregulated in those with MYC translocations. The poor prognostic marker, CD44, was among the upregulated genes. MYC translocations occurred as secondary abnormalities, present in subclones in one-half of the cases. Longitudinal studies indicated an association with induction failure and relapse.
MYC 易位是 T 系急性淋巴细胞白血病（T-ALL）的一种遗传亚型，在 196 例 T-ALL 患者（64 例成人和 132 例儿童）的队列中评估，发生率约为 6%。易位有 2 种类型；与 T 细胞受体基因座重排的易位和与其他伙伴重排的易位。MYC 易位与 T-ALL 的 TAL/LMO 亚型显著相关（P =.018）和 6 号三体（P <.001）和 7 号三体（P <.001）。在 TAL/LMO 亚型中，基因表达谱分析在有无 MYC 易位的患者之间鉴定出 148 个差异表达基因；具体来说，在有 MYC 易位的患者中，有 77 个基因上调，71 个基因下调。预后不良标志物 CD44 是上调基因之一。MYC 易位是作为次要异常发生的，在一半的病例中存在于亚克隆中。纵向研究表明与诱导失败和复发有关。
