Endocrine Abstracts

Background: Neuroendocrine tumors (NETs) and Adrenocortical carcinomas (ACCs) are rare and heterogeneous tumors entities. Advanced NETs and ACC own poor prognosis with less than 40% of five-year survival. There is a need for improved biomarkers to predict disease prognosis and treatment sensitivity. A broad overview of NETs and ACC genetics has never been explored.

Aim: To investigate genotype–phenotype correlations on a pan-endocrine cancer level with a focus on somatic mutations.

Methods: A litterature search identified papers utilizing Whole Exome/Genome Sequencing on NETs or ACCs since 2000. Key inclusion criteria were: 1. NETs from the gastrointestinal tract, lung, adrenal/paraganglia and thyroid as well as ACC; 2. Available data on patient characteristics and somatic mutations. Data on clinicopathological features and genetic variants were collected.

Results: 1747 articles were screened and thirty-four publications were selected. Data from a total of 1209 patients were enrolled in this study. Among ACCs, 264 cases were included. 67.8% (145 out of 214) were females; median age was 49.6 (range,13–83) years; mean tumor size was 11.1 ± 4.9 cm; and 36.2% (76 out of 210) manifested malignant behavior with either local invasion, metastatic or recurrent disease. Among 945 NETs, we identified 304 pheochromocytoma/paraganglioma, 131 medullary thyroid carcinoma, 249 pancreatic NETs, 182 small intestinal NETs, 61 lung NETs, 6 breast NETs, 6 duodenal NETs and 6 unkonwn orign NETs. Among these, 50.3%(306 out of 608) were female patients. The median age was 52 (range,10–89) years; mean tumor size was 4.4 ± 2.6 cm and 35.6% (217 out of 609) were recorded with malignant behaviors.

Conclusion: This cohort may provide a first and broad overview of the genetic landscape among both NETs and ACCs. Future research will aim to identify genotype–phenotype correlations with a focus on the dicsocery of prognostic biomarkers.