Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

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×). c Immunohistochemistry (IHC) staining for p53 of the proband’s tumor showed positive nuclear accumulation (magnification 100×). 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×). f Immunohistochemistry staining for p53 of the proband’s sister’s tumor showed positive nuclear accumulation (magnification 100×