Mast Cell Leukemia Exome Sequencing

Mast cell leukemia is a rare form of acute myeloid leukemia. Few genomic alterations are currently known. To identify novel determinants, we performed exome capture on DNA from a mast cell leukemia patient’s leukemic cells and matched germline using the SeqCap EZ Human Exome Library v2.0, (Roche NimbleGen; Madison, WI, USA) followed by deep sequencing on a Genome Analyzer IIx (Illumina; San Diego, CA, USA). We identified several missense mutations, at least two of which have diagnostic and therapeutic clinical implications.