title: Expression profile of wild-type ETV6 in childhood acute leukaemia.
abstract: Comparative expression analysis of wild-typeETV6 in the disease state showed an absence of expression in ETV6-CBFA2 acute lymphoblastic leukaemia (ALL) when compared with non-ETV6-CBFA2 ALL and acute myeloid leukaemia. Fluorescent in-situ hybridization and loss of heterozygosity studies showed that 73% of the ETV6-CBFA2 samples had a fully or partially deleted second ETV6 allele, explaining the lack of wild-type expression in these patients. Although the second ETV6 allele was identified in the remaining patients, no ETV6 expression was detected. These observations support the hypothesis that loss of ETV6 expression is a critical secondary event for leukaemogenesis in ETV6-CBFA2 ALL.
authors.affiliation: Children's Cancer Group, and Medical Oncology Unit, Cancer Research UK, St Bartholomew's and The London, Queen Mary School of Medicine and Dentistry, London, UK. naina.patel@cancer.org.uk
authors.forename: Naina
authors.initials: N
authors.lastname: Patel
authors.forename: Lindsey K
authors.initials: LK
authors.lastname: Goff
authors.forename: Taane
authors.initials: T
authors.lastname: Clark
authors.forename: Anthony M
authors.initials: AM
authors.lastname: Ford
authors.forename: Nicola
authors.initials: N
authors.lastname: Foot
authors.forename: Debra
authors.initials: D
authors.lastname: Lillington
authors.forename: Sandra
authors.initials: S
authors.lastname: Hing
authors.forename: Kathy
authors.initials: K
authors.lastname: Pritchard-Jones
authors.forename: Louise K
authors.initials: LK
authors.lastname: Jones
authors.forename: Vaskar
authors.initials: V
authors.lastname: Saha
mesh_terms: D000208:Acute Disease; D000483:Alleles; D002648:Child; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics*; D019656:Loss of Heterozygosity; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C102421:TEL-AML1 fusion protein