Article
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.
Cancer genetics - 1 Oct 2017
Trubicka Joanna, Filipek Iwona, Iwanowski Piotr, Rydzanicz Małgorzata, Grajkowska Wiesława, Piekutowska-Abramczuk Dorota, Chrzanowska Krystyna, Karkucińska-Więckowska Agnieszka, Iwanicka-Pronicka Katarzyna, Pronicki Maciej, Łastowska Maria, Płoski Rafał, Dembowska-Bagińska Bożenna
Abstract excerpt
Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. We describe an 18-month-old boy with ultra-rare,...
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