Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications

Abstract

Abstract Neuroendocrine neoplasms (NENs) encompass a highly heterogeneous group of neoplasms with varying prognoses and molecular alterations. Molecular profiling studies have furthered our understanding of NENs, but the majority of previous studies have focused on primary tumors and on mutational landscapes using DNA sequencing data. Here, we describe the genomic and transcriptomic landscapes of 28 metastatic NENs across different primary anatomical sites (PASs) and their potential clinical implications. Although our cohort is small, our analyses provide further insights on the molecular commonalities and distinctions between metastatic NENs of different PASs. Comparison to several reference transcriptome data sets revealed that despite considerable whole genome and transcriptome variability in NENs, the metastatic NENs are still more like each other than other cancer types. Our study also highlights the potential utility of NEN transcriptome data for molecular classification and clinical decision making.