Diagnosis in Neuroendocrine Neoplasms: From Molecular Biology to Molecular Imaging

SIMPLE SUMMARY: Neuroendocrine neoplasms are a small group of malignancies with a diverse prognosis and behaviour. In order to offer an adequate treatment, physicians need to perform a proper diagnosis, staging and stratification. This review aims to help to integrate the information from pathology, immunohistochemistry, molecular biology and imaging to guide this process. ABSTRACT: Neuroendocrine neoplasms (NENs) are a heterogeneous group of tumours with a diverse behaviour, biology and prognosis, whose incidence is gradually increasing. Their diagnosis is challenging and a multidisciplinary approach is often required. The combination of pathology, molecular biomarkers, and the use of novel imaging techniques leads to an accurate diagnosis and a better treatment approach. To determine the functionality of the tumour, somatostatin receptor expression, differentiation, and primary tumour origin are the main determining tumour-dependent factors to guide treatment, both in local and metastatic stages. Until recently, little was known about the biological behaviour of these tumours. However, in recent years, many advances have been achieved in the molecular characterization and diagnosis of NENs. The incorporation of novel radiotracer-based imaging techniques, such as (68)Gallium-DOTATATE PET-CT, has significantly increased diagnostic sensitivity, while introducing the theragnosis concept, offering new treatment strategies. Here, we will review current knowledge and novelties in the diagnosis of NENs, including molecular biology, pathology, and new radiotracers.