Jornal de Síndromes Genéticas e Terapia Gênica
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Acute Myeloid Leukaemia after Treatment for Acute Lymphoblastic Leukaemia in Girl with Bloom Syndrome

Madeleine Adams, Meriel Jenney, Laz Lazarou, Rhian White, Sanda Birdsall, Timo Staab, Detlev Schindler and Stefan Meyer

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.