Multiple endocrine neoplasia type 1: a review of current diagnostic and treatment approaches

Abstract

ABSTRACT Introduction Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited syndrome, caused by heterozygote inactivating mutation of the MEN1 tumor suppressor gene, and characterized by the development of multiple tumors in target neuroendocrine tissues. Areas covered Authors reviewed, after targeted literature research, the main techniques and general protocols employed for tumor diagnosis in MEN1 patients, describing their positive aspects and limitations. Surgical approaches, conventional medical therapies, and novel molecular-based treatments of the main MEN1 tumors are also discussed. Expert opinion MEN1 lifelong cancer surveillance allows early tumor discovery and is fundamental in the reduction of morbidity and mortality of the syndrome. Diagnostic techniques, with increasing sensitivity and specificity, are constantly being improved, some taking advantage of the molecular characteristics of tumors. Surgery remains the therapy of choice for most MEN1 tumors, usually in association with medical therapies for the control of hormone-derived syndromes. Novel pharmacological treatments, based on molecular features of MEN1 tumors, are taking hold in the clinical management of patients in case of unresectable and/or advanced tumors. Specific clinical trials, not limited to single case reports, are a fundamental step to validate the efficacy of these treatments and establish the adequate posology for MEN1 tumors.