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Volume 2012, Article ID 349837, 6 pages
Review Article

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications

1c/o Young Oncology Unit, Department of Paediatric and Adolescent Oncology, Christie Hospital, Wilmslow Road, Manchester M20 6XB, UK
2Stem Cell & Leukaemia Proteomics Laboratory, School of Cancer and Enabling Sciences, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK
3Department of Paediatric Oncology, Royal Manchester Children's Hospital Oxford Road, Manchester M13 9WL, UK
4Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Germany, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
5Gendiagnostik Kommission, Robert Koch Institut, DGZ-Ring 1, 13086 Berlin, Germany

Received 6 January 2012; Accepted 13 March 2012

Academic Editor: Laura Hays

Copyright © 2012 Stefan Meyer et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, bone marrow failure, and extreme risk of leukemic transformation. Bone marrow surveillance is an important part of the clinical management of FA and often reveals cytogenetic aberrations. Here, we review bone marrow findings in FA and discuss the clinical and biological implications of chromosomal aberrations associated with leukemic transformation.