title: Acute myeloid leukemia associated with variant t(8;21) detected by conventional cytogenetic and molecular studies: a report of four cases and review of the literature.
abstract: Acute myeloid leukemia (AML) with the t(8;21) (q22;q22) creating the AML1-ETO fusion gene is a distinct type of AML generally associated with a favorable prognosis. The clinicopathologic features of AML carrying variant t(8;21) are less well characterized. We report 4 cases of AML characterized by ins(8;21)(q22;q22q22), t(1;21;8)(q25;q22;q22), t(8;11;21)(q22;q13;q22), and t(4;21;8;12)(q31.3;q22;q22;q15), respectively. Fluorescence in situ hybridization or reverse transcriptase-polymerase chain reaction assay confirmed the presence of AML1-ETO or its transcripts in 3 cases assessed. Each neoplasm had morphologic characteristics of AML associated with the t(8;21). The blasts in 2 cases expressed CD19. All patients were treated with combination chemotherapy and are in complete remission, despite 2 relapses in 1 patient, with a follow-up period ranging from 8 to 46 months. We conclude that cases of AML with variant t(8;21) display morphologic, immunophenotypic, and clinical features similar to classical cases. A combination of conventional cytogenetic, and molecular analyses allows identification of these variants.
authors.affiliation: Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston 77030-4009, USA.
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.forename: Lynne V
authors.initials: LV
authors.lastname: Abruzzo
authors.forename: Jose R
authors.initials: JR
authors.lastname: Valbuena
authors.forename: L Jeffrey
authors.initials: LJ
authors.lastname: Medeiros
authors.forename: Pei
authors.initials: P
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D014178:Translocation, Genetic
chemical_list: C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein