Hyde R Katherine, Liu Paul, Friedman Alan D
Department of Biochemistry and Molecular Biology, and Fred and Pamela Buffet Cancer Center, University of Nebraska Medical Center, Omaha, NE, USA.
Division of Intramural Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Adv Exp Med Biol. 2017;962:265-282. doi: 10.1007/978-981-10-3233-2_17.
Mutations in RUNX1 and CBFB have long been recognized as important in hematological malignancies. Point mutations and deletions of RUNX1 are frequently found in myelodysplastic syndrome, myeloproliferative disease, and acute myeloid leukemia. Germline mutations in RUNX1 are associated with familial platelet disorder with predisposition to AML. In addition, as will be discussed in other chapters, both RUNX1 and CBFB are involved in recurrent chromosomal rearrangements in leukemia. More recently, roles for the non-mutated RUNX1 and CBFB genes have been identified in multiple leukemia subtypes. This chapter will discuss the roles of RUNX1 and CBFB, both in diseases caused by their mutations or deletions, as well as in the context of chromosomal rearrangements.
长期以来，RUNX1和CBFB的突变在血液系统恶性肿瘤中一直被认为很重要。RUNX1的点突变和缺失在骨髓增生异常综合征、骨髓增殖性疾病和急性髓系白血病中经常被发现。RUNX1的种系突变与易患AML的家族性血小板疾病有关。此外，正如在其他章节中将讨论的，RUNX1和CBFB都参与白血病中反复出现的染色体重排。最近，已在多种白血病亚型中确定了未发生突变的RUNX1和CBFB基因的作用。本章将讨论RUNX1和CBFB在由其突变或缺失引起的疾病中的作用，以及在染色体重排背景下的作用。
