Whole-Genome Mate Pair Sequencing Transforms Cytogenetic Analysis Of Hematologic Malignancies: Development Of A Targeted Panel To Detect Diagnostic/Prognostic Chromosomal Rearrangements And Copy Number Changes In Aml

Acute myeloid leukemia (AML) is the most common form of acute leukemia affecting both children and adults. Once recognized as a single disease, the World Health Organization now groups AML into ten subtypes based on genetic abnormality. This is based on differences among recurrent genetic abnormalities with respect to response to therapy, relapse risk and overall survival. Currently most testing of AML patients occurs by karyotype analysis, FISH or RT-PCR. Here we describe a next generation sequencing approach to better classify and accurately detect abnormalities associated with AML.