Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing.

摘要: Genetic lesions are crucial for cancer initiation. Recently, whole genome sequencing, using next generation technology, was used as a systematic approach to identify mutations in genomes of various types tumors including melanoma, lung and breast cancer, well acute myeloid leukemia (AML). Here, we tumor-specific somatic by sequencing transcriptionally active genes. Mutations were detected comparing the transcriptome sequence an AML sample with corresponding remission sample. Using this approach, found five non-synonymous specific tumor They include nonsense mutation affecting RUNX1 gene, which is known mutational target AML, missense putative suppressor gene TLE4, encodes interacting protein. Another identified SHKBP1, acts downstream FLT3, receptor tyrosine kinase mutated about 30% cases. The frequency TLE4 SHKBP1 95 cytogenetically normal patients 2%. Our study demonstrates that leads rapid detection recurring point coding regions genes relevant malignant transformation.