Amplified segment in the 'Down Syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2

Summary 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 lymphoblast...

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Bibliographic Details
Published in:British journal of haematology 2012-04, Vol.157 (2), p.197-200
Main Authors: Canzonetta, Claudia, Hoischen, Alexander, Giarin, Emanuela, Basso, Guiseppe, Veltman, Joris A., Nacheva, Elisabeth, Nizetic, Dean, Groet, Jürgen
Format: Article
Language:English
Subjects:
acute myeloid leukaemia
Adolescent
Adult
Biological and medical sciences
chromosome 21
Chromosome aberrations
Core Binding Factor Alpha 2 Subunit - genetics
Down syndrome
Down Syndrome - genetics
ERG
Female
Genetic Loci
Hematologic and hematopoietic diseases
Humans
Leukemia, Myeloid, Acute - genetics
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
Medical genetics
Medical sciences
Proto-Oncogene Protein c-ets-2 - genetics
RUNX1
Trans-Activators - genetics
Transcriptional Regulator ERG
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Summary:Summary 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.
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2011.08985.x