Unknown

Dataset Information

0

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.

SUBMITTER: Adams M 

PROVIDER: S-EPMC4052885 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

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]

Similar Datasets

| S-EPMC3816716 | biostudies-literature
| S-EPMC3468705 | biostudies-literature
| S-EPMC8398498 | biostudies-literature
| S-EPMC4665216 | biostudies-literature
| S-EPMC3358826 | biostudies-literature
| S-EPMC1770326 | biostudies-other
| S-EPMC5725770 | biostudies-other
| S-EPMC3076610 | biostudies-literature
| S-EPMC6531401 | biostudies-literature
| S-EPMC7761059 | biostudies-literature