Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
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
Affiliation
Department of Genetic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.Issue Date
2020
Metadata
Show full item recordAbstract
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 CancerDOI
10.1007/s10689-020-00221-1PubMed ID
33219493Additional Links
https://dx.doi.org/10.1007/s10689-020-00221-1Type
ArticleLanguage
enae974a485f413a2113503eed53cd6c53
10.1007/s10689-020-00221-1
Scopus Count
Collections
Related articles
- Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
- Authors: Gönenc II, Elcioglu NH, Martinez Grijalva C, Aras S, Großmann N, Praulich I, Altmüller J, Kaulfuß S, Li Y, Nürnberg P, Burfeind P, Yigit G, Wollnik B
- Issue date: 2022 May
- Bloom syndrome and the underlying causes of genetic instability.
- Authors: Ababou M
- Issue date: 2021 May
- A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.
- Authors: Ben Salah G, Hadj Salem I, Masmoudi A, Kallabi F, Turki H, Fakhfakh F, Ayadi H, Kamoun H
- Issue date: 2014 Nov
- 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
- Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase.
- Authors: Mirzaei H, Schmidt KH
- Issue date: 2012 Nov 20