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    A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

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    Authors
    Meyer, Stefan
    Fergusson, William D
    Oostra, Anneke B
    Medhurst, Annette L
    Waisfisz, Quinten
    De Winter, Johan P
    Chen, Fei
    Carr, Trevor F
    Clayton-Smith, Jill
    Clancy, Tara
    Green, Michael
    Barber, Lisa M
    Eden, Tim O B
    Will, Andrew M
    Joenje, Hans
    Taylor, G Malcolm
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    Affiliation
    Cancer-Immunogenetics Laboratory, University of Manchester, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom. stefan.meyer@man.ac.uk
    Issue Date
    2005-04
    
    Metadata
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    Abstract
    Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by congenital and developmental abnormalities, hypersensitivity to DNA cross-linking agents such as mitomycin C (MMC), and strong predisposition to acute myeloid leukemia (AML). In this article, we describe clinical and molecular findings in a boy with a severe FA phenotype who developed AML by the age of 2. Although he lacked a strong family history of cancer, he was subsequently shown to carry biallelic mutations in the FANCD1/BRCA2 gene. These included an IVS7 splice-site mutation, which is strongly associated with early AML in homozygous or compound heterozygous carrier status in FA-D1 patients. Myeloid leukemia cells from this patient have been maintained in culture for more than 1 year and have been designated as the SB1690CB cell line. Growth of SB1690CB is dependent on granulocyte macrophage colony stimulating factor or interleukin-3. This cell line has retained its MMC sensitivity and has undergone further spontaneous changes in the spectrum of cytogenetic aberrations compared with the primary leukemia. This is the second AML cell line derived from an FA-D1 patient and the first proof that malignant clones arising in FA patients can retain inherited MMC sensitivity. As FA-derived malignancies are normally not very responsive to treatment, this implies there are important mechanisms of acquiring correction of the cellular FA phenotype that would explain the poor chemoresponsiveness observed in FA-associated malignancies and might also play a role in the initiation and progression of cancer in the general population.
    Citation
    A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations. 2005, 42 (4):404-15 Genes Chromosomes Cancer
    Journal
    Genes, Chromosomes & Cancer
    URI
    http://hdl.handle.net/10541/76808
    DOI
    10.1002/gcc.20153
    PubMed ID
    15645491
    Type
    Article
    Language
    en
    ISSN
    1045-2257
    ae974a485f413a2113503eed53cd6c53
    10.1002/gcc.20153
    Scopus Count
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