Case Reports in Genetics / 2020 / Article / Tab 1

Case Report

Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature

Table 1

Age/sex (years; F = female), lesion size, immunohistochemistry for β-catenin, and mutational analysis of CTNNB1 are summarized for three cases of pilomatrixoma. The number of cells and percentage of tumor cells present on conventional smears used for molecular testing and the obtained DNA input are also reported.

Case IDAge/sexLesion size (cm)Immunohistochemistry for β-cateninNumber of cellsTumor cells (%)DNA input (ng)CTNNB1 mutationResection and histologic correlationOther findings

16/F1.0Cytoplasmic and equivocal nuclear staining1560100c.98C>T, p.(Ser33Phe)NoNo
213/F1.4Cytoplasmic and equivocal nuclear staining58081.5c.98C>T, p.(Ser33Phe)YesNo
338/F1.4Membranous staining37016.7c.134C>T, p.(Ser45Phe)YesFGFR2 p.S252L

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