Inherited Endocrine Neoplasia — A Comprehensive Review from Gland to Gene

AbstractPurpose of the ReviewThere has been a significant expansion in our knowledge of inherited endocrine neoplasia. This review describes syndromic and non-syndromic hereditary endocrine tumours, associated genetic testing, and progress in the management of the disease.Recent FindingsDisease-targeted genetic testing for endocrine neoplasia is routinely available, including recently identified endocrine tumour susceptibility genesGPR101,GCM2,DICER1, andARMC5. The recommendations for surveillance of those at risk of endocrine neoplasia are still evolving, as the evidence base is limited due to the rarity of these diseases. However, in MEN2, pre-emptive thyroidectomy is established surgical practice and may also be considered for other thyroid neoplastic conditions includingDICER1 andPTEN. In advanced MTC, targeted medical therapies are now licensed for use.SummaryIdentifying patients with endocrine neoplasia formerly relied on clinical, biochemical, and radiological assessment. Increasingly, early genetic diagnosis identifies pre-symptomatic patients, enabling personalised medical care by informing ongoing surveillance and therapeutic interventions to improve outcomes.
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research