title: Genetics of myeloid malignancies: pathogenetic and clinical implications.
abstract: Myeloid malignancies are clonal disorders that are characterized by acquired somatic mutation in hematopoietic progenitors. Recent advances in our understanding of the genetic basis of myeloid malignancies have provided important insights into the pathogenesis of acute myeloid leukemia (AML) and myeloproliferative diseases (MPD) and have led to the development of novel therapeutic approaches. In this review, we describe our current state of understanding of the genetic basis of AML and MPD, with a specific focus on pathogenetic and therapeutic significance. Specific examples discussed include RAS mutations, KIT mutations, FLT3 mutations, and core binding factor rearrangements in AML, and JAK2 mutations in polycythemia vera, essential thrombocytosis, and chronic idiopathic myelofibrosis.
authors.affiliation: Brigham and Women's Hospital, Division of Hematology, Karp Family Research Building, 5th Floor, 1 Blackfan Cir, Boston, MA 02115, USA. sfrohling@rics.bwh.harvard.edu
authors.forename: Stefan
authors.initials: S
authors.lastname: Fröhling
authors.forename: Claudia
authors.initials: C
authors.lastname: Scholl
authors.forename: D Gary
authors.initials: DG
authors.lastname: Gilliland
authors.forename: Ross L
authors.initials: RL
authors.lastname: Levine
mesh_terms: D005260:Female; D005544:Forecasting; D018014:Gene Transfer Techniques; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D015316:Genetic Therapy / Q000379:methods*; D019337:Hematologic Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000628:therapy*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics / Q000401:mortality / Q000473:pathology / Q000628:therapy; D008297:Male; D008967:Molecular Biology; D009196:Myeloproliferative Disorders / Q000235:genetics / Q000473:pathology / Q000628:therapy; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D016019:Survival Analysis; D016896:Treatment Outcome