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 ID	Age/sex	Lesion size (cm)	Immunohistochemistry for β-catenin	Number of cells	Tumor cells (%)	DNA input (ng)	CTNNB1 mutation	Resection and histologic correlation	Other findings
1	6/F	1.0	Cytoplasmic and equivocal nuclear staining	15	60	100	c.98C>T, p.(Ser33Phe)	No	No
2	13/F	1.4	Cytoplasmic and equivocal nuclear staining	5	80	81.5	c.98C>T, p.(Ser33Phe)	Yes	No
3	38/F	1.4	Membranous staining	3	70	16.7	c.134C>T, p.(Ser45Phe)	Yes	FGFR2 p.S252L