Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2.
Children with Down syndrome have a 20- to 50-fold increased risk of acute lymphocytic or myeloid leukaemia. Whole or partial gains of chromosome 21 have been described in multiple childhood leukaemias, and have recently been reported as a likely primary event in B-precursor-acute lymphoblastic leukaemia. It is unclear which amplified gene(s) on chromosome 21 play a key role in leukaemia progression. We describe a minimal amplified segment within the so-called 'Down syndrome critical region' shared between two cases of AML-M0; a Down syndrome, and a constitutionally normal individual. Interestingly, the amplified region does not include the oncogenes RUNX1, ETS2 and ERG.
Centre for Paediatrics, Blizard Institute, Barts and The London Medical School, Queen Mary University of London, London, UK.
Claudia
C
Canzonetta
Alexander
A
Hoischen
Emanuela
E
Giarin
Guiseppe
G
Basso
Joris A
JA
Veltman
Elisabeth
E
Nacheva
Dean
D
Nizetic
Jürgen
J
Groet
D000293:Adolescent; D000328:Adult; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D050787:Proto-Oncogene Protein c-ets-2 / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D000071230:Transcriptional Regulator ERG
D050676:Core Binding Factor Alpha 2 Subunit; C072312:ERG protein, human; C494069:ETS2 protein, human; D050787:Proto-Oncogene Protein c-ets-2; C493728:RUNX1 protein, human; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG