alexa Acute Myeloid Leukaemia after Treatment for Acute Lymphoblastic Leukaemia in Girl with Bloom Syndrome
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
Open Access

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Case Report

Acute Myeloid Leukaemia after Treatment for Acute Lymphoblastic Leukaemia in Girl with Bloom Syndrome

Madeleine Adams1, Meriel Jenney1, Laz Lazarou2, Rhian White2, Sanda Birdsall3, Timo Staab4, Detlev Schindler4 and Stefan Meyer5-7*

1Department of Paediatric Oncology, Children’s Hospital for Wales, University Hospital, Cardiff CF14 4XW, United Kingdom

2Department of Medical Genetics, University Hospital, Cardiff CF14 4XW, United Kingdom

3Tumour Cytogenetics, University Hospital, Cardiff CF14 4XW, United Kingdom

4Department of Human Genetics, University of Würzburg, Würzburg, Germany

5Stem Cell and Leukaemia Proteomics Laboratory; School of Cancer and Imaging Sciences, The University of Manchester, Manchester Academic Health Science Centre, UK

6Department of Paediatric Onclogy, Royal Manchester Children’s Hospital, UK

7Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK

*Corresponding Author:
Dr. Stefan Meyer, MD PhD FRCPCH
Academic Unit of Paediatric and Adolescent Oncology
University of Manchester, c/o Young Oncology Unit
The Christie NHS Foundation Trust, Wilmslow Road
Manchester M20 6XB, United Kingdom
E-mail: [email protected]

Received date: August 05, 2013; Accepted date:September 10, 2013; Published date: September 18, 2013

Citation: Adams M, Jenney M, Lazarou L, White R, Birdsall S, et al. (2013) Acute Myeloid Leukaemia after Treatment for Acute Lymphoblastic Leukaemia in Girl with Bloom Syndrome. J Genet Syndr Gene Ther 4:177. doi:10.4172/2157-7412.1000177

Copyright: © 2013 Adams M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



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.


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