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    Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome

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    Authors
    Huson, S. M.
    Staab, T.
    Pereira, M.
    Ward, H.
    Paredes, Roberto
    Evans, D. G.
    Baumhoer, D.
    O'Sullivan, J.
    Cheesman, E.
    Schindler, D.
    Meyer, Stefan
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    Affiliation
    Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
    Issue Date
    2020
    
    Metadata
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    Abstract
    Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diagnosed with BS at the age of 9 years. Molecular analysis identified the pathogenic germline BLM sequence variants (c.1642C>T and c.2207_2212delinsTAGATTC). This is the first report of IFS related to BS, for which we show that both BLM alleles are maintained in the tumor and demonstrate a TPM3-NTKR1 fusion transcript in the IFS. Our communication emphasizes the importance of long-term follow up after treatment for pediatric neoplastic conditions, as clues to important genetic entities might manifest later, and the identification of a heritable tumor predisposition often leads to changes in patient surveillance and management.
    Citation
    Huson SM, Staab T, Pereira M, Ward H, Paredes R, Evans DG, et al. Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome. Fam Cancer. 2020.
    Journal
    Familial Cancer
    URI
    http://hdl.handle.net/10541/623620
    DOI
    10.1007/s10689-020-00221-1
    PubMed ID
    33219493
    Additional Links
    https://dx.doi.org/10.1007/s10689-020-00221-1
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1007/s10689-020-00221-1
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