Insulinomas and glucagonomas are rare tumours originating from the neuroendocrine cells of the pancreas. Though predominantly sporadic, up to 10% of insulinomas and non-functioning glucagon-secreting tumours are linked to inherited syndromes. These primarily include multiple endocrine neoplasia type 1, with some insulinomas also associated with tuberous sclerosis complex and neurofibromatosis type 1.

In this comprehensive review, Marini et al. provide a detailed exploration of the clinical implications and genetic foundations of these tumours, as well as the critical role of targeted genetic testing and surveillance for their early detection and management. They delve into the genetic mutations, their influence on tumour behaviour, and the range of treatment options, from surgical interventions to potential pharmacological treatments such as mTOR inhibitors. Interestingly, they highlight how the study of these genetic tumour syndromes has expanded clinical, therapeutic and molecular knowledge, benefiting both hereditary and sporadic cases. As advocated by the authors, given the rarity of these conditions, international collaboration is necessary to enhance our understanding and improve outcomes for affected patients.

Read the full article in Endocrine-Related Cancer 31 e230245 https://doi.org/10.1530/ERC-23-0245