Homo sapiens Exome

Whole exome sequencing was performed to identify novel pathogenic somatic mutational events in myeloid malignancies, including MDS, MDS/MPN and AML. By the analysis of 20 exome of various myeloid malignancies, we identified novel recurrent SETBP1 somatic mutations which results in gain of function. It was significant that 95% of the affected genomic location by such somatic mutations were identical to germline mutation already confirmed in a very rare congenital Schinzel-Giedion syndrome. The somatic mutations of SETBP1 were associated with poor prognosis due to aggressive clinical phenotypes.