TY - JOUR
T1 - Amplification of AML1 on a duplicated chromosome 21 in acute lymphoblastic leukemia
T2 - A study of 20 cases
AU - Harewood, L.
AU - Robinson, H.
AU - Harris, R.
AU - Jabbar Al-Obaidi, M.
AU - Jalali, G. R.
AU - Martineau, M.
AU - Moorman, A. V.
AU - Sumption, N.
AU - Richards, S.
AU - Mitchell, C.
AU - Harrison, C. J.
AU - Hagermeijer, Anne
AU - Berger, Roland
AU - Crolla, John
AU - Kempski, Helena
N1 - Funding Information:
We thank the Leukaemia Research Fund for financial support and the UK cytogenetics laboratories that contributed samples to this study: Belfast, Birmingham, Cambridge, Cardiff, Croydon, Dundee, Edinburgh, Great Ormond Street Children’s Hospital, London, Manchester, Newcastle, Norwich, Royal Marsden
PY - 2003/3/1
Y1 - 2003/3/1
N2 - 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.
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.
KW - Acute lymphoblastic leukemia
KW - Amplified AML1
KW - Duplicated chromosome 21
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U2 - 10.1038/sj.leu.2402849
DO - 10.1038/sj.leu.2402849
M3 - Article
C2 - 12646943
AN - SCOPUS:0037348975
SN - 0887-6924
VL - 17
SP - 547
EP - 553
JO - Leukemia
JF - Leukemia
IS - 3
ER -