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

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.

KEYWORDS:

• Clinical surveillance
• diagnostic protocols
• molecular therapies
• multiple endocrine neoplasia type 1 (MEN1)
• neuroendocrine tumors
• pharmacological therapy
• surgery
• therapeutic approaches

Article highlights

• MEN1 is an inherited complex multiple tumor syndrome requiring lifelong surveillance for cancer

• Diagnostic techniques used for the detection of MEN1-associated tumors are mostly the same as their single sporadic counterparts

• Surgical approaches to MEN1 tumors differ from those applied to their sporadic counterparts because of the multiple nature of MEN1 tumors and their high rate of persistence and/or recurrence

• Some medical therapies are able to control tumor-derived hormone over-secretion and/or tumor growth

• Molecular targeted therapies and RNA-based therapies, interfering with menin-regulated pathways, could be the future of MEN1 treatment

This box summarizes key points contained in the article.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.