PMID- 19738329 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20121002 LR - 20200930 IS - 1523-7834 (Print) IS - 1523-7834 (Linking) VI - 35 IP - 3 DP - 2009 TI - A Cryptic t(1;21;8)(p36;q22;q22) in a Case of Acute Myeloid Leukemia with Maturation. PG - 88-92 AB - 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. FAU - Tirado, Carlos A AU - Tirado CA AD - Laboratory of Cytogenetics, UT Southwestern Medical Center, Dallas, TX. FAU - Chena, Weina AU - Chena W FAU - Valdez, Federico J AU - Valdez FJ FAU - Henderson, Samuel AU - Henderson S FAU - Smart, Ruth L AU - Smart RL FAU - Doolittle, Jeff AU - Doolittle J FAU - Garcia, Rolando AU - Garcia R FAU - Patel, Sangeeta AU - Patel S FAU - Holdridge, Scott AU - Holdridge S FAU - Chastain, Candace AU - Chastain C FAU - Auchus, Mary AU - Auchus M FAU - Collins, Robert H AU - Collins RH LA - eng PT - Journal Article PL - United States TA - J Assoc Genet Technol JT - Journal of the Association of Genetic Technologists JID - 9807282 EDAT- 2009/09/10 06:00 MHDA- 2009/09/10 06:01 CRDT- 2009/09/10 06:00 PHST- 2009/09/10 06:00 [entrez] PHST- 2009/09/10 06:00 [pubmed] PHST- 2009/09/10 06:01 [medline] PST - ppublish SO - J Assoc Genet Technol. 2009;35(3):88-92.