Toggle Main Menu Toggle Search

Open Access padlockePrints

Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia: a study of 20 cases

Lookup NU author(s): Professor Anthony MoormanORCiD, Professor Christine Harrison FRCPath FMedSci


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


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.

Publication metadata

Author(s): Harewood L, Robinson H, Harris R, Al-Obaidi MJ, Jalali GR, Martineau M, Moorman AV, Sumption N, Richards S, Mitchell C, Harrison CJ

Publication type: Article

Publication status: Published

Journal: Leukemia

Year: 2003

Volume: 17

Issue: 3

Pages: 547-553

ISSN (print): 0887-6924

ISSN (electronic): 1476-5551


DOI: 10.1038/sj.leu.2402849

Notes: Journal Article Research Support, Non-U.S. Gov't Review England official journal of the Leukemia Society of America, Leukemia Research Fund, U.K


Altmetrics provided by Altmetric