Oral Presentation Annual Meetings of the Endocrine Society of Australia and Society for Reproductive Biology and Australia and New Zealand Bone and Mineral Society 2016

The role of genetic testing in pituitary tumours – who to test? (#251)

Ann McCormack 1
  1. St Vincent's Hospital, Darlinghurst, NSW, Australia

Historically it is recognised that 5% of all pituitary tumours occur in the setting of familial pituitary tumour syndromes including MEN1, AIP, CDKN1B (p27) and Carney complex. However, in the past couple of years succinate dehydrogenase mutations have also been described in families with both pituitary adenomas and phaeochromocytomas or paragangliomas. As more genes become implicated in pituitary tumourigenesis, it is likely that 15-20% of patients with pituitary tumours will carry germline mutations in predisposition genes. Next generation sequencing technology allows rapid assessment of multiple genes in a single patient with significant cost and time efficiencies. The use of NGS gene panels is quickly replacing traditional single gene Sanger sequencing methodology in genetic testing for many endocrine disorders. Our early experience with utilising a gene panel for detection of germline mutations in patients with pituitary tumours will be presented. Use of panel testing uncovers new complexities including the frequent detection of gene variants of uncertain significance and the assessment of mutations found in more than 1 pituitary predisposition gene. Utilisation of gene panels can also be used for gene discovery. Perhaps the role of genetic testing in pituitary tumours should be who not to test.