Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.
AffiliationDepartment of Paediatric Oncology, Children's Hospital for Wales, University Hospital, Cardiff CF14 4XW, United Kingdom.
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AbstractBloom 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.
CitationAcute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. 2013, 4 (8): J Genet Syndr Gene Ther
JournalJournal of Genetic Syndromes & Gene Therapy
- Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.
- Authors: Ben Salah G, Salem IH, Masmoudi A, Ben Rhouma B, Turki H, Fakhfakh F, Ayadi H, Kamoun H
- Issue date: 2014 Oct
- Tandem duplication of the FLT3 gene is found in acute lymphoblastic leukaemia as well as acute myeloid leukaemia but not in myelodysplastic syndrome or juvenile chronic myelogenous leukaemia in children.
- Authors: Xu F, Taki T, Yang HW, Hanada R, Hongo T, Ohnishi H, Kobayashi M, Bessho F, Yanagisawa M, Hayashi Y
- Issue date: 1999 Apr
- [Lineage switch - conversion of acute lymphoblastic leukaemia to acute myeloid leukaemia in 4 years old girl].
- Authors: Szpecht D, Derwich K, Wachowiak J, Konatkowska B, Dworacki G
- Issue date: 2008 Oct-Dec
- Aberrant expression of beta-catenin discriminates acute myeloid leukaemia from acute lymphoblastic leukaemia.
- Authors: Serinsöz E, Neusch M, Büsche G, Wasielewski R, Kreipe H, Bock O
- Issue date: 2004 Aug
- Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
- Authors: Mirzaei H, Schmidt KH
- Issue date: 2012 Nov 20