作者: Emilie Lalonde , Gerald Wertheim , Marilyn M. Li
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摘要: Pediatric leukemia remains a significant contributor to childhood lethality rates. However, recent development of new technologies including next-generation sequencing has increased our understanding the biological and genetic underpinnings leukemia, resulting in novel diagnostic treatment paradigms. The most prevalent pediatric leukemias include B-cell acute lymphoblastic (B-ALL) myeloid (AML). These are highly heterogeneous, both clinically genetically. There multiple subgroups defined by World Health Organization (WHO), each with distinct clinical management. Clinical laboratories have started adopting genomic testing strategies high throughput assays which, together conventional cytogenetic techniques, enable optimal patient care. This review summarizes techniques used support management highlighting technical, advances. We illustrate utilities comprehensive evaluation genomes through case examples, which includes interrogations hundreds genes, mutation mechanisms using next generation technologies. Finally, we provide future perspective on genomics precision medicine.