Yeung David T O, Osborn Michael P, White Deborah L
Precision Medicine Theme, South Australian Health and Medical Research Institute, Adelaide, Australia.
Faculty of Health and Medical Science, University of Adelaide, Adelaide, South Australia, Australia.
Br J Haematol. 2022 Apr;197(1):13-27. doi: 10.1111/bjh.17879. Epub 2021 Nov 7.
Acute lymphoblastic leukaemia (ALL) remains a leading cause of non-traumatic death in children, and the majority of adults diagnosed will succumb to the disease. Recent advances in molecular biology and bioinformatics have enabled more detailed genomic analysis and a better understanding of the molecular biology of ALL. A number of recurrent genomic drivers have recently been described, which not only aid in diagnosis and prognostication, but also may offer opportunities for specific therapeutic targeting. The present review summarises B-ALL genomic pathology at diagnosis, including lesions detectable using traditional cytogenetic methods as well as those detected only through advanced molecular techniques.
急性淋巴细胞白血病(ALL)仍是儿童非创伤性死亡的主要原因,大多数被诊断出的成年人都会死于这种疾病。分子生物学和生物信息学的最新进展使得更详细的基因组分析成为可能,并且能更好地理解ALL的分子生物学。最近已经描述了一些常见的基因组驱动因素,这些因素不仅有助于诊断和预后评估,还可能为特定的治疗靶点提供机会。本综述总结了诊断时B-ALL的基因组病理学,包括使用传统细胞遗传学方法可检测到的病变以及仅通过先进分子技术检测到的病变。