Rehn Jacqueline A, O'Connor Matthew J, White Deborah L, Yeung David T
Cancer Program, Precision Medicine Theme, South Australian Health & Medical Research Institute (SAHMRI), Adelaide, SA 5000, Australia.
Faculty of Health and Medical Science, University of Adelaide, Adelaide, SA 5000, Australia.
Cancers (Basel). 2020 Sep 30;12(10):2815. doi: 10.3390/cancers12102815.
-rearrangement () is a recently discovered recurrent genomic lesion reported in 4-7% of childhood B cell acute lymphoblastic leukaemia (B-ALL) cases. This subtype has favourable outcomes, especially in children and adolescents treated with intensive chemotherapy. The fusion most commonly links the hypervariable gene to a gene located within the D4Z4 macrosatellite repeat on chromosome 4, with a homologous polymorphic repeat on chromosome 10. is cryptic to most standard diagnostic techniques, and difficult to identify even with next generation sequencing assays. This review summarises the clinical features and molecular genetics of r B-ALL and proposes prospective new diagnostic methods.
-重排（）是最近发现的一种复发性基因组病变，在4%-7%的儿童B细胞急性淋巴细胞白血病（B-ALL）病例中报道。这种亚型预后良好，尤其是在接受强化化疗的儿童和青少年中。最常见的融合是将高变基因与位于4号染色体上D4Z4大卫星重复序列内的一个基因相连，10号染色体上有一个同源多态性重复序列。对大多数标准诊断技术来说是隐匿的，即使使用下一代测序检测也很难识别。本综述总结了r B-ALL的临床特征和分子遗传学，并提出了前瞻性的新诊断方法。
