Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
AuthorsHuson, S. M.
Evans, D. G.
AffiliationDepartment of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.
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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.
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.
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- Issue date: 2019 Feb
- A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
- Authors: Antczak A, Kluźniak W, Wokołorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Masojć B, Górski B, Gromowski T, Nagorna A, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Domagała P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubiński J, Cybulski C, Polish Hereditary Prostate Cancer Consortium., Other members of the Polish Hereditary Prostate Cancer Consortium., Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Słupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagała W, Chosia M, van de Wetering T, Serrano-Fernández P, Puszyński M, Soczawa M, Switała J, Archimowicz S, Kordowski M, Zyczkowski M, Borówka A, Bagińska J, Krajka K, Szwiec M, Haus O, Janiszewska H, Stembalska A, Sąsiadek MM
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