DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

摘要: Acute myeloid leukaemia is a highly malignant haematopoietic tumour that affects about 13,000 adults in the United States each year. The treatment of this disease has changed little past two decades, because most genetic events initiate remain undiscovered. Whole-genome sequencing now possible at reasonable cost and timeframe to use approach for unbiased discovery tumour-specific somatic mutations alter protein-coding genes. Here we present results obtained from typical acute genome, its matched normal counterpart same patient's skin. We discovered ten genes with acquired mutations; were previously described are thought contribute progression, eight new virtually all cells presentation relapse, function which not yet known. Our study establishes whole-genome as an method discovering cancer-initiating unidentified may respond targeted therapies.