%0 Journal Article
%T Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family
%A Alicia Y. Zhou
%A Amal Almutairi
%A Cynthia L. Neben
%A Fatimah Alqubaishi
%A Lamia Al-Subaie
%A Latifa AlMubarak
%A Malak Abedalthagafi
%A Mariam AlSaeed
%A Musa AlHarbi
%A Nada AlTassan
%A Nahla Mubarak
%A Rasha Aljelaify
%A Weal AlJabarat
%J Archive of "NPJ Genomic Medicine".
%D 2018
%R 10.1038/s41525-018-0074-3
%X Clinical features and genotypic-phenotypic variability in LFS family. a MRI of the proband (IV.4) showed typical choroid plexus carcinoma (CPC) with a large, heterogeneously-enhancing right lateral intra-ventricular mass with foci of calcification and hemorrhaging. b Histological section of the proband¡¯s tumor stained with hematoxylin and eosin (H&E) showed increased cellularity with a predominantly solid pattern, nuclear atypia, and increased mitotic activity (magnification 100¡Á). c Immunohistochemistry (IHC) staining for p53 of the proband¡¯s tumor showed positive nuclear accumulation (magnification 100¡Á). d MRI of the proband¡¯s sister (IV.2) showed CPC. e Histological section of the proband¡¯s tumor stained with H&E showed increased cellularity with a predominantly papillary pattern, nuclear atypia, and increased mitotic activity (magnification 100¡Á). f Immunohistochemistry staining for p53 of the proband¡¯s sister¡¯s tumor showed positive nuclear accumulation (magnification 100¡Á
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6300601/