Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
| dc.contributor.author | Adams, M | |
| dc.contributor.author | Jenney, M | |
| dc.contributor.author | Lazarou, L | |
| dc.contributor.author | White, R | |
| dc.contributor.author | Birdsall, S | |
| dc.contributor.author | Staab, T | |
| dc.contributor.author | Schindler, D | |
| dc.contributor.author | Meyer, Stefan | |
| dc.date.accessioned | 2014-07-08T14:24:04Z | |
| dc.date.available | 2014-07-08T14:24:04Z | |
| dc.date.issued | 2013-09-18 | |
| dc.identifier.citation | Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. 2013, 4 (8): J Genet Syndr Gene Ther | en |
| dc.identifier.issn | 2157-7412 | |
| dc.identifier.pmid | 24932421 | |
| dc.identifier.doi | 10.4172/2157-7412.1000177 | |
| dc.identifier.uri | http://hdl.handle.net/10541/322606 | |
| dc.description.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. | |
| dc.language | ENG | |
| dc.language.iso | en | en |
| dc.rights | Archived with thanks to Journal of genetic syndromes & gene therapy | en |
| dc.title | Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. | en |
| dc.type | Article | en |
| dc.contributor.department | Department of Paediatric Oncology, Children's Hospital for Wales, University Hospital, Cardiff CF14 4XW, United Kingdom. | en |
| dc.identifier.journal | Journal of Genetic Syndromes & Gene Therapy | en |
| html.description.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. |