title: A Cryptic t(1;21;8)(p36;q22;q22) in a Case of Acute Myeloid Leukemia with Maturation.
abstract: The t(8;21)/RUNX1-RUNX1T1 is found in ~5 percent of cases of acute myeloid leukemia (AML) and in 10 percent of the prior AML with maturation (M2) category of the French-American-British (FAB) classification. While AML with t(8;21) is considered a distinct entity with a favorable prognosis, the clinical consequence of variant translocations is less well defined. In this report we described a 45 year-old male patient having a diagnosis of AML-M2 with morphologic and immunophenotypic features suggestive of t(8;21). However, the initial karyotypic analysis revealed an apparently balanced translocation between 1p36 and 8q22. Further fluorescence in situ hybridization (FISH) studies using the AML1/ETO and the p58 probes from Abbott Molecular, demonstrated a three-way translocation between chromosomes 1, 21, and 8, with single fusion of RUNX1-RUNX1T1 on the derivative chromosome 8 [t(1;21;8)(p36.1;q22;q22)]. The patient was in complete remission after induction therapy followed by consolidation. This report demonstrates the importance of FISH studies for detection of cryptic specific chromosome rearrangements that may have prognostic significance.
authors.affiliation: Laboratory of Cytogenetics, UT Southwestern Medical Center, Dallas, TX.
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Tirado
authors.forename: Weina
authors.initials: W
authors.lastname: Chena
authors.forename: Federico J
authors.initials: FJ
authors.lastname: Valdez
authors.forename: Samuel
authors.initials: S
authors.lastname: Henderson
authors.forename: Ruth L
authors.initials: RL
authors.lastname: Smart
authors.forename: Jeff
authors.initials: J
authors.lastname: Doolittle
authors.forename: Rolando
authors.initials: R
authors.lastname: Garcia
authors.forename: Sangeeta
authors.initials: S
authors.lastname: Patel
authors.forename: Scott
authors.initials: S
authors.lastname: Holdridge
authors.forename: Candace
authors.initials: C
authors.lastname: Chastain
authors.forename: Mary
authors.initials: M
authors.lastname: Auchus
authors.forename: Robert H
authors.initials: RH
authors.lastname: Collins