title: RUNX1 mutations in clonal myeloid disorders: from conventional cytogenetics to next generation sequencing, a story 40 years in the making.
abstract: Translocations and mutations in the core binding factor genes, RUNX1 or CBFB, are found in acute myeloid and lymphocytic leukemia, therapy-related myeloid leukemia, myelodysplastic syndrome, chronic myelomonocytic leukemia, and in familial platelet disorder with predisposition to acute myeloid leukemia. Here we review the biochemical and biological properties of the normal Runx1 protein, discuss the nature of RUNX1 mutations in myeloid leukemia, their prognostic significance, and the mutations that cooperate or co-exist with them in these various diseases.
authors.affiliation: Department of Internal Medicine, Division of Hematology-Oncology and the Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
authors.forename: James K
authors.initials: JK
authors.lastname: Mangan
authors.forename: Nancy A
authors.initials: NA
authors.lastname: Speck
mesh_terms: D000818:Animals; D050676:Core Binding Factor Alpha 2 Subunit / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D006410:Hematopoiesis / Q000502:physiology; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D051379:Mice; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D011487:Protein Conformation
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human