Significance of EGFR/HER2 Expression and PIK3CA Mutations in Giant Cell Tumour of Bone Development

Table 3

Clinical features and comparative data of patients with p.E545P and p.S553Tfs7 mutations in several studies.

	Nucleotide	Protein	Pathology	Clinical outcome	Studies
PIK3CA gene; Exon 9	c.1634A>C	E545A	Cancer	(i) Gain of function; (ii) Oncogenic transformation	Gymnopoulus et al., 2018
	c.1658-1659GTdelinsC	S553Tfs7	Endometrial cancer	(i) PI3K expression: 2+/80% cells; (ii) pAKT: 0	O Tredan et al., 2012
	c.1634A>C & c.1658-1659GTdelinsC	E545A & S553Tfs7	Adenocarcinoma (AC)	(i) Stage IV; (ii) Overall survival: 4 months; (iii) He had bone metastasis at diagnosis; (iv) No EGFR, BRAF, and KRAS mutations	S Ekinci et al., 2015
	c.1634A>C & c.1658-1659GTdelinsC	E545A & S553Tfs7	Cowden syndrome	(i) Driver of predisposition to hamartoma-neoplasia syndromes; (ii) Increase in kinase activity	Orloff et al., 2013