Table 1.

Genetic abnormalities identified from human studies to be associated with pituitary neoplasias.

Gene	Tumour type/Syndrome	Gene defect	Reference
AIP	FIPA	Germline inactivating mutation	(Beckers et al., 2013)
Young onset sporadic pituitary macroadenomas
BMP-4	Corticotrophinomas	Gene down-regulation	(Giacomini et al., 2006)
Somatotrophinomas	Gene over-expression
Prolactinomas	Gene over-expression
CASP8	Functioning and non-functioning adenomas	Methylation mediated gene silencing	(Bello et al., 2006)
CCNA2	MEN1 patients without MEN1, CASR or HRPT2 mutations	Gene over-expression	(Agarwal et al., 2009)
CCNB1	MEN1 patients without MEN1, CASR or HRPT2 mutations	Gene over-expression	(Agarwal et al., 2009)
CCNB2	MEN1 patients without MEN1, CASR or HRPT2 mutations	Gene over-expression	(Agarwal et al., 2009)
CCND1	Non-functioning adenomas	Gene over-expression	(Jordan et al., 2000)
CCNE1	Cushing's syndrome	Gene over-expression	(Jordan et al., 2000, Jaffrain-Rea et al., 2013)
MEN1 patients without MEN1, CASR or HRPT2 mutations
CDH1	Somatotrophinomas with prominent fibrous bodies	Methylation-mediated gene silencing	(Zhou et al., 2013)
CDH13	Functioning and non-functioning adenomas	Methylation-mediated gene silencing, correlating with tumour aggressiveness	(Qian et al., 2007)
CDKN1A	Functioning and non-functioning adenomas	Gene down-regulation	(Hiyama et al., 2002)
CDKN1B	MEN4 patients	Germline inactivating mutation	(Pellegata et al., 2006)
CDKN2A	Functioning and non-functioning adenomas	Methylation-mediated gene silencing	(Zhou et al., 2013)
CDKN2B	Functioning and non-functioning adenomas	Methylation-mediated gene silencing	(Zhou et al., 2013)
CDKN2C	Functioning and non-functioning adenomas	Methylation-mediated gene silencing	(Zhou et al., 2013)
DAPK family	Functioning and non-functioning adenomas	Loss of expression	(Simpson et al., 2002)
FGFR2	Functioning adenomas	Methylation-mediated gene silencing	(Zhu et al., 2007)
FGFR4	Functioning adenomas	Constitutively phosphorylated	(Ezzat et al., 2002)
GADD45B	Gonadotrophinoma	Gene silencing	(Michaelis et al., 2011)
GADD45G	Functioning, but more commonly in non-functioning adenomas	Gene silencing	(Zhou et al., 2013)
GNAS	Somatotrophinomas	Mutations detected	(Mantovani et al., 2010)
HMGA-1	Prolactinomas	Gene over-expression	(De Martino et al., 2009)
HMGA-2	Prolactinomas	Gene over-expression	(Fedele et al., 2006)
LGALS3	Lactotrophinomas	Gene over-expression	(Righi et al., 2010)
Corticotrophinomas
MEG3	Non-functioning adenomas	Methylation-mediated gene silencing	(Zhang et al., 2010)
MEN1	MEN1	Inactivating mutations and gene deletions	(Thakker, 2010)
Young onset sporadic pituitary adenomas
MGMT	Carcinomas	Methylation-mediated gene silencing	(Zhou et al., 2013)
PLAGL1	Non-functioning adenomas	Methylation-mediated gene silencing	(Pagotto et al., 2000)
PRKAR1A	Somatotrophinomas	Gene down-regulation	(Kirschner, 2010)
Non-functioning adenomas
PTAG	Adenomas (subtype not defined)	Methylation-mediated gene silencing	(Bahar et al., 2004)
PTTG1	Functioning and non-functioning adenomas	Gene over-expression	(Salehi et al., 2008)
RAS family	Functioning and non-functioning adenomas	Activating mutations	(Karga et al., 1992)
RASSF1	Functioning and non-functioning adenomas	Methylation-mediated gene silencing	(Qian et al., 2005)
RASSF3	Somatotrophinomas	Methylation-mediated gene silencing	(Peng et al., 2013)
RB1	Aggressive adenomas	Rare inactivating mutations, methylation-mediated gene silencing	(Pei et al., 1995)
Carcinoma
SOCS1	Somatotrophinomas	Methylation-mediated gene silencing	(Buslei et al., 2006)
Corticotrophinomas
Non-functioning adenomas
SOX2	Early onset pituitary adenomas	Rare gene deletion	(Alatzoglou et al., 2011)
TP53	Carcinoma	Rare inactivating mutations	(Tanizaki et al., 2007) (Kawashima et al., 2009)
Atypical corticotrophinoma	Rare inactivating mutation in one patient
USP8	Corticotroph adenomas	Dominant gain of function mutations	(Reincke et al., 2015, Jian et al., 2015)