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dc.contributor.authorHuson, S. M.
dc.contributor.authorStaab, T.
dc.contributor.authorPereira, M.
dc.contributor.authorWard, H.
dc.contributor.authorParedes, Roberto
dc.contributor.authorEvans, D. G.
dc.contributor.authorBaumhoer, D.
dc.contributor.authorO'Sullivan, J.
dc.contributor.authorCheesman, E.
dc.contributor.authorSchindler, D.
dc.contributor.authorMeyer, Stefan
dc.date.accessioned2021-01-06T11:15:22Z
dc.date.available2021-01-06T11:15:22Z
dc.date.issued2020en
dc.identifier.citationHuson 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.en
dc.identifier.pmid33219493en
dc.identifier.doi10.1007/s10689-020-00221-1en
dc.identifier.urihttp://hdl.handle.net/10541/623620
dc.description.abstractBloom 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.en
dc.language.isoenen
dc.relation.urlhttps://dx.doi.org/10.1007/s10689-020-00221-1en
dc.titleInfantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndromeen
dc.typeArticleen
dc.contributor.departmentDepartment of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.en
dc.identifier.journalFamilial Canceren
dc.description.noteen]
refterms.dateFOA2021-01-06T12:48:32Z


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