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Multiple endocrine neoplasia type 1 (MEN-1) and neuroendocrine neoplasms (NENs)

神经内分泌肿瘤 医学 胰腺 多发性内分泌肿瘤 门1 入射(几何) 病理 内科学 内分泌系统 肿瘤科 生理学 生物 激素 基因 遗传学 物理 光学
作者
Grigoris Effraimidis,Ulrich Knigge,Maria Rossing,Peter Oturai,Åse Krogh Rasmussen,Ulla Feldt‐Rasmussen
出处
期刊:Seminars in Cancer Biology [Elsevier]
卷期号:79: 141-162 被引量:29
标识
DOI:10.1016/j.semcancer.2021.04.011
摘要

Neuroendocrine neoplasms (NENs) are relatively rare neoplasms with 6.4-times increasing age-adjusted annual incidence during the last four decades. NENs arise from neuroendocrine cells, which release hormones in response to neuronal stimuli and they are distributed into organs and tissues. The presentation and biological behaviour of the NENs are highly heterogeneous, depending on the organ. The increased incidence is mainly due to increased awareness and improved detection methods both in the majority of sporadic NENs (non-inherited), but also the inherited groups of neoplasms appearing in at least ten genetic syndromes. The most important one is multiple endocrine neoplasia type 1 (MEN-1), caused by mutations in the tumour suppressor gene MEN1. MEN-1 has been associated with different tumour manifestations of NENs e.g. pancreas, gastrointestinal tract, lungs, thymus and pituitary. Pancreatic NENs tend to be less aggressive when arising in the setting of MEN-1 compared to sporadic pancreatic NENs. There have been very important improvements over the past years in both genotyping, genetic counselling and family screening, introduction and validation of various relevant biomarkers, as well as newer imaging modalities. Alongside this development, both medical, surgical and radionuclide treatments have also advanced and improved morbidity, quality of life and mortality in many of these patients. Despite this progress, there is still space for improving insight into the genetic and epigenetic factors in relation to the biological mechanisms determining NENs as part of MEN-1. This review gives a comprehensive update of current evidence for co-occurrence, diagnosis and treatment of MEN-1 and neuroendocrine neoplasms and highlight the important progress now finding its way to international guidelines in order to improve the global management of these patients.
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