Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
AffiliationDepartment of Paediatric Oncology, Children's Hospital for Wales, University Hospital, Cardiff CF14 4XW, United Kingdom.
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AbstractBloom 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.
CitationAcute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. 2013, 4 (8): J Genet Syndr Gene Ther
JournalJournal of Genetic Syndromes & Gene Therapy