Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis
Laura Raiti, Kyoko E. Yuki, Lise Cinq-Mars, Edward J. Higginbotham, Vilma Navickiene, Yisu Li, Zhuozhi Wang, Bhooma Thiruv, Tristan Charlinski, Bailey Gallinger, Rosemarie E. Venier, Annie Huang, Avram Denburg, Kathy Chun, Anita Villani · 2026
Read Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis by Laura Raiti, Kyoko E. Yuki, Lise Cinq-Mars, Edward J. Higginbotham, Vilma Navickiene, Yisu Li, Zhuozhi Wang, Bhooma Thiruv, Tristan Charlinski, Bailey Gallinger, Rosemarie E. Venier, Annie Huang, Avram Denburg, Kathy Chun, Anita Villani (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13562682.txt.
Description
Laura Raiti and colleagues report two children whose cancer predisposition was missed by standard genetic testing. Rhabdoid tumour predisposition syndrome, a strongly inherited condition, raises the risk of aggressive childhood tumours and is usually traced to variants in the genes SMARCB1 or SMARCA4. Both patients tested negative on routine panels, yet their clinical pictures still pointed to the syndrome. This 2026 case report describes what deeper testing found.
Advanced genomic analysis revealed mosaic insertions of a mobile DNA element, called SVA, inside SMARCB1 in both patients. Mosaic means the change was present in only some cells, which helped it slip past standard sequence and deletion tests. The cases argue for broader genomic sequencing when a predisposition syndrome is strongly suspected despite negative panels, so affected children are not left undiagnosed.
Catalog record
| CREATOR | Laura Raiti, Kyoko E. Yuki, Lise Cinq-Mars, Edward J. Higginbotham, Vilma Navickiene, Yisu Li, Zhuozhi Wang, Bhooma Thiruv, Tristan Charlinski, Bailey Gallinger, Rosemarie E. Venier, Annie Huang, Avram Denburg, Kathy Chun, Anita Villani |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 34 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |