Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome.

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.

• Authors: Sue M Huson, Timo Staab, Marta Pereira, Heather Ward, Roberto Paredes, D Gareth Evans, Daniel Baumhoer, James O'Sullivan, Ed Cheesman, Detlev Schindler, Stefan Meyer
• Journal: Familial cancer (Fam Cancer) Vol. 21 Issue 1 Pg. 85-90 (01 2022) ISSN: 1573-7292 [Electronic] Netherlands
• PMID: 33219493 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2020. The Author(s).

Chemical References

• TPM3 protein, human
• Tropomyosin
• RecQ Helicases

Topics

• Alleles
• Bloom Syndrome (genetics)
• Child
• Fibrosarcoma (genetics)
• Genetic Predisposition to Disease
• Genotype
• Humans
• Infant
• Male
• RecQ Helicases (genetics)
• Tropomyosin (genetics, therapeutic use)