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Constitutional abnormalities of chromosome 21 predispose to iAMP21-acute lymphoblastic leukaemia

Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci, Claire Schwab


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In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21) (q10;q10)c, have similar to 2700 increased risk of developing ALL with iAMP21 (intrachromosomal amplification of chromosome 21). In these patients, chromosome 15 as well as chromosome 21 is involved in the formation of iAMP21, referred to here as der(21)(15;21). Individuals with constitutional ring chromosomes involving chromosome 21, r(21) c, are also predisposed to iAMP21-ALL, involving the same series of mutational processes as seen in sporadic-and der(21)(15;21)-iAMP21 ALL. Evidence is accumulating that the dicentric nature of the Robertsonian and ring chromosome is the initiating factor in the formation of the complex iAMP21 structure. Unravelling these intriguing predispositions to iAMP21-ALL may provide insight into how other complex rearrangements arise in cancer.

Publication metadata

Author(s): Harrison CJ, Schwab C

Publication type: Review

Publication status: Published

Journal: European Journal of Medical Genetics

Year: 2016

Volume: 59

Issue: 3

Pages: 162-165

Print publication date: 01/03/2016

Online publication date: 02/02/2016

Acceptance date: 24/01/2016

ISSN (print): 1769-7212

ISSN (electronic): 1878-0849



DOI: 10.1016/j.ejmg.2016.01.006