PMID- 12646943 OWN - NLM STAT- MEDLINE DCOM- 20030516 LR - 20130304 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 17 IP - 3 DP - 2003 Mar TI - Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases. PG - 547-53 AB - This study identifies multiple copies of the AML1 gene on a duplicated chromosome 21, dup(21), as a recurrent abnormality in acute lymphoblastic leukemia (ALL). Clusters of AML1 signals were visible at interphase by fluorescence in situ hybridization (FISH). In metaphase, they appeared tandemly duplicated on marker chromosomes of five distinct morphological types: large or small acrocentrics, metacentrics, submetacentrics or rings. The markers comprised only chromosome 21 material. Karyotypes were near-diploid and, besides dup(21), no other established chromosomal changes were observed. A total of 20 patients, 1.5 and <0.5% among consecutive series of childhood and adult ALL respectively, showed this phenomenon. Their median age was 9 years, white cell counts were low and all had a pre-B/common immunophenotype. Although this series is not the first report of this abnormality, it is the largest, permitting a detailed description of the variety of morphological forms that duplicated chromosome 21 can assume. FAU - Harewood, L AU - Harewood L AD - Leukaemia Research Fund Cytogenetics Group, Cancer Sciences Division, University of Southampton, UK. FAU - Robinson, H AU - Robinson H FAU - Harris, R AU - Harris R FAU - Al-Obaidi, M Jabbar AU - Al-Obaidi MJ FAU - Jalali, G R AU - Jalali GR FAU - Martineau, M AU - Martineau M FAU - Moorman, A V AU - Moorman AV FAU - Sumption, N AU - Sumption N FAU - Richards, S AU - Richards S FAU - Mitchell, C AU - Mitchell C FAU - Harrison, C J AU - Harrison CJ LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review PL - England TA - Leukemia JT - Leukemia JID - 8704895 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (DNA-Binding Proteins) RN - 0 (Proto-Oncogene Proteins) RN - 0 (RUNX1 protein, human) RN - 0 (Transcription Factors) SB - IM MH - Adolescent MH - Adult MH - Age Factors MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - *Chromosomes, Human, Pair 21 MH - Core Binding Factor Alpha 2 Subunit MH - DNA-Binding Proteins/*genetics MH - *Gene Amplification MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Karyotyping MH - Middle Aged MH - Ploidies MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics/mortality MH - *Proto-Oncogene Proteins MH - Survival Rate MH - Transcription Factors/*genetics RF - 29 EDAT- 2003/03/21 04:00 MHDA- 2003/05/17 05:00 CRDT- 2003/03/21 04:00 PHST- 2003/03/21 04:00 [pubmed] PHST- 2003/05/17 05:00 [medline] PHST- 2003/03/21 04:00 [entrez] AID - 2402849 [pii] AID - 10.1038/sj.leu.2402849 [doi] PST - ppublish SO - Leukemia. 2003 Mar;17(3):547-53. doi: 10.1038/sj.leu.2402849.