Article
Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.
Familial cancer - 1 Jan 2022
Huson Sue M, Staab Timo, Pereira Marta, Ward Heather, Paredes Roberto, Evans D Gareth, Baumhoer Daniel, O'Sullivan James, Cheesman Ed, Schindler Detlev, Meyer Stefan
Abstract excerpt
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...
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