Loading...
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
Huson, S. M. Staab, T. Pereira, M. Ward, H. Paredes, Roberto Evans, D. G. Baumhoer, D. O'Sullivan, J. Cheesman, E. Schindler, D.
Huson, S. M.
Staab, T.
Pereira, M.
Ward, H.
Paredes, Roberto
Evans, D. G.
Baumhoer, D.
O'Sullivan, J.
Cheesman, E.
Schindler, D.
Citations
Altmetric:
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.
Description
Date
2020
Publisher
Collections
Files
Loading...
From UNPAYWALL
Adobe PDF, 1.51 MB
Keywords
Type
Article
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.