Genetic Endocrine Tumour Syndromes

Genetic Endocrine Tumour Syndromes

The genetic endocrine tumours are rare, complex, multi-organ conditions that are dominantly inherited, and manifest throughout childhood and adult life. In recent years the identification of the genetic causes of genetic endocrine tumours syndromes has enabled the introduction of predictive testing, with patients being identified in the preclinical state, and often in early childhood.

Structured screening programmes are in place, that should enable the detection and treatment of tumors at an early stage. Collaboration by experts in genetic medicine, imaging, biochemistry, surgery and endocrinology is essential to achieve the best outcomes. However, uncertainty persists regarding the optimal timing and method of treatment. Data collected from clinicians and patients will guide the group in the prioritisation and design of studies that will help us to address these areas of uncertainty.