Core-binding factor acute myeloid leukemia.
Core-binding factor acute myeloid leukemia (AML) is cytogenetically defined by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22), commonly abbreviated as t(8;21) and inv(16), respectively. In both subtypes, the cytogenetic rearrangements disrupt genes that encode subunits of core-binding factor, a transcription factor that functions as an essential regulator of normal hematopoiesis. The rearrangements t(8;21) and inv(16) involve the  RUNX1/RUNX1T1  ( AML1-ETO ) and  CBFB/MYH11  genes, respectively. These 2 subtypes are categorized as AML with recurrent genetic abnormalities, and hence the cytogenetic fusion transcripts are considered diagnostic of acute leukemia even when the marrow blast count is less than 20%. The t(8;21) and inv(16) subtypes of AML have been usually grouped and reported together in clinical studies; however, recent studies have demonstrated genetic, clinical, and prognostic differences, supporting the notion that they represent 2 distinct biologic and clinical entities. This review summarizes the spectrum of this subset of AMLs, with particular emphasis on molecular genetics and pathologic findings.
Department of Pathology, University of Utah Health Sciences Center, 50 N Medical Dr, Salt Lake City, Utah 84132, USA. nikhil_sangle@yahoo.com
Nikhil A
NA
Sangle
Sherrie L
SL
Perkins
D050660:Core Binding Factors / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D014178:Translocation, Genetic
D050660:Core Binding Factors