Article
Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.
The Journal of pathology - 1 Sept 2013
Witkowski Leora, Lalonde Emilie, Zhang Jian, Albrecht Steffen, Hamel Nancy, Cavallone Luca, May Sandra Thompson, Nicholson James C, Coleman Nicholas, Murray Matthew J, Tauber Peter F, Huntsman David G, Schönberger Stefan, Yandell David, Hasselblatt Martin, Tischkowitz Marc D, Majewski Jacek, Foulkes William D
Abstract excerpt
Here we provide compelling evidence that next-generation sequencing will revolutionize diagnostics. We reappraised a case from 1991, published in 1993, describing the unique occurrence of an ovarian immature teratoma arising in a young woman and a clonally distinct intracerebral immature teratoma developing in her daughter. We conducted whole-exome sequencing on constitutional DNA from the mother and her daughter...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.