AML-M5
Exome Sequencing Identifies Somatic Mutations in Acute Monocytic Leukemia
Acute monocytic leukemia, the M5 subtype of acute myeloid leukemia (AML-M5), has long been reported to display a poor prognosis associated with hyperleukocytosis and extramedullary involvement. Chromosomal translocations involving MLL gene on 11q23 are mostly found in AML-M5. Mutations in NPM1, FLT3 and NRAS have also been reported in AML-M5. However, these genetic changes occur only in a subset of AML-M5 leukemias.   The development of massively parallel sequencing technologies makes it feasible to catalogue all classes of somatically acquired mutations in a cancer. However, a major challenge of cancer genome analysis is to identify "driver" mutations and several recently conducted genome studies of leukemias and solid tumors have concentrated analysis on coding regions ("exomes") to increase the likelihood of identifying driver mutations. To gain new insight into leukemogenesis and the molecular basis underlying the clinical heterogeneity of AML-M5, we performed exome sequencing in a large series of patients with this disease.
We performed exome sequencing in acute monocytic leukemia (AML-M5) to gain new insight into leukemogenesis and the molecular basis underlying the clinical heterogeneity of this kind of disease.