Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
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ABSTRACT:
SUBMITTER: Adams M
PROVIDER: S-EPMC4052885 | biostudies-literature | 2013 Sep
REPOSITORIES: biostudies-literature
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Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
Adams Madeleine M Jenney Meriel M Lazarou Laz L White Rhian R Birdsall Sanda S Staab Timo T Schindler Detlev D Meyer Stefan S
Journal of genetic syndromes & gene therapy 20130901 8
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 i ...[more]
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