End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes
L Damen, MF Broekema, MJ Vogel, E Korpershoek, MJ Koudijs, BR Boersma, KM Dreijerink, PJ Zondervan, HJ Dubbink, LP van Hest · 2026
Read End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes by L Damen, MF Broekema, MJ Vogel, E Korpershoek, MJ Koudijs, BR Boersma, KM Dreijerink, PJ Zondervan, HJ Dubbink, LP van Hest (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-13217016.txt.
Description
L. Damen and co-authors present a 2026 case series that ended three long diagnostic searches for inherited tumour syndromes. All three patients looked clinically affected, yet standard blood DNA testing found nothing, because each carried the fault in only a small fraction of cells.
The syndromes were von Hippel-Lindau disease and neurofibromatosis types 1 and 2. Sequencing several affected tissues from each patient exposed the same pathogenic variant recurring at low levels, and hindsight testing found it in blood at just 1 to 7 percent of reads. The authors argue that multi-tissue sequencing should be a routine next step when suspicion is strong and blood testing is blank, since a firm diagnosis changes surveillance and family counselling.
Catalog record
| CREATOR | L Damen, MF Broekema, MJ Vogel, E Korpershoek, MJ Koudijs, BR Boersma, KM Dreijerink, PJ Zondervan, HJ Dubbink, LP van Hest |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 18 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |