title: Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
abstract: Bloom syndrome (BS) is an inherited genomic instability disorder caused by disruption of the BLM helicase and confers an extreme cancer predisposition. Here we report on a girl with BS who developed acute lymphoblastic leukaemia (ALL) at age nine, and treatment-related acute myeloid leukaemia (t-AML) aged 12. She was compound heterozygous for the novel BLM frameshift deletion c.1624delG and the previously described c.3415C>T nonsense mutation. Two haematological malignancies in a child with BS imply a fundamental role for BLM for normal haematopoiesis, in particular in the presence of genotoxic stress.
authors.affiliation: Department of Paediatric Oncology, Children's Hospital for Wales, University Hospital, Cardiff CF14 4XW, United Kingdom.
authors.forename: Madeleine
authors.initials: M
authors.lastname: Adams
authors.affiliation: Department of Paediatric Oncology, Children's Hospital for Wales, University Hospital, Cardiff CF14 4XW, United Kingdom.
authors.forename: Meriel
authors.initials: M
authors.lastname: Jenney
authors.affiliation: Department of Medical Genetics, University Hospital, Cardiff CF14 4XW, United Kingdom.
authors.forename: Laz
authors.initials: L
authors.lastname: Lazarou
authors.affiliation: Department of Medical Genetics, University Hospital, Cardiff CF14 4XW, United Kingdom.
authors.forename: Rhian
authors.initials: R
authors.lastname: White
authors.affiliation: Tumour Cytogenetics, University Hospital, Cardiff CF14 4XW, United Kingdom.
authors.forename: Sanda
authors.initials: S
authors.lastname: Birdsall
authors.affiliation: Department of Human Genetics, University of Würzburg, Würzburg, Germany.
authors.forename: Timo
authors.initials: T
authors.lastname: Staab
authors.affiliation: Department of Human Genetics, University of Würzburg, Würzburg, Germany.
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.affiliation: Stem Cell and Leukaemia Proteomics Laboratory; School of Cancer and Imaging Sciences, The University of Manchester, Manchester Academic Health Science Centre ; Department of Paediatric Onclogy, Royal Manchester Children's Hospital ; Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK.
authors.forename: Stefan
authors.initials: S
authors.lastname: Meyer
keywords: Bloom syndrome; childhood leukaemia; treatment related leukaemia