Blood Cancer Program, Precision Cancer Medicine Theme, South Australian Health & Medical Research Institute, Adelaide, SA 5000, Australia.
Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia.
Genes (Basel). 2023 Jan 19;14(2):264. doi: 10.3390/genes14020264.
Chromosomal rearrangements involving the gene occur frequently in acute lymphoblastic leukaemia (ALL). -rearranged ALL ( ALL) has poor long-term survival rates and is the most common ALL subtype in infants less than 1 year of age. ALL frequently occurs with additional chromosomal abnormalities including disruption of the gene, usually by exon deletion. Typically, ALL in infants is accompanied by a limited number of cooperative le-sions. Here we report a case of aggressive infant ALL harbouring additional rare gene fusions. Comprehensive genomic and transcriptomic analyses were performed on sequential samples. This report highlights the genomic complexity of this particular disease and describes the novel gene fusions and .
涉及 基因的染色体重排在急性淋巴细胞白血病（ALL）中经常发生。-重排 ALL（ALL）的长期生存率较差，是 1 岁以下婴儿中最常见的 ALL 亚型。ALL 常伴有其他染色体异常，包括 基因的破坏，通常通过外显子缺失。通常，婴儿的 ALL 伴有数量有限的协同性病变。我们在此报告一例伴有额外罕见 基因融合的侵袭性婴儿 ALL。对连续样本进行了全面的基因组和转录组分析。本报告强调了该疾病的基因组复杂性，并描述了新的基因融合 和 。
