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

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 l...

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Main Authors: Kathleen Wee, Kevin C. Yang, David F. Schaeffer, Chen Zhou, Emily Leung, Xiaolan Feng, Janessa Laskin, Marco A. Marra, Jonathan M. Loree, Sharon M. Gorski
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-00549-7
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author Kathleen Wee
Kevin C. Yang
David F. Schaeffer
Chen Zhou
Emily Leung
Xiaolan Feng
Janessa Laskin
Marco A. Marra
Jonathan M. Loree
Sharon M. Gorski
author_facet Kathleen Wee
Kevin C. Yang
David F. Schaeffer
Chen Zhou
Emily Leung
Xiaolan Feng
Janessa Laskin
Marco A. Marra
Jonathan M. Loree
Sharon M. Gorski
author_sort Kathleen Wee
collection DOAJ
description 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.
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spelling doaj-art-985bd8bda19a439ab4d9ff1a680ce19d2025-08-20T03:09:35ZengNature PortfolioScientific Reports2045-23222025-05-0115111010.1038/s41598-025-00549-7Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implicationsKathleen Wee0Kevin C. Yang1David F. Schaeffer2Chen Zhou3Emily Leung4Xiaolan Feng5Janessa Laskin6Marco A. Marra7Jonathan M. Loree8Sharon M. Gorski9Canada’s Michael Smith Genome Sciences Centre, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerDivision of Anatomic Pathology, Vancouver General HospitalDepartment of Pathology and Laboratory Medicine, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerVancouver Island Centre, BC CancerDivision of Medical Oncology, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerDivision of Medical Oncology, BC CancerCanada’s Michael Smith Genome Sciences Centre, BC CancerAbstract 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.https://doi.org/10.1038/s41598-025-00549-7Neuroendocrine neoplasmsGenomicsPersonalized medicineTranscriptomicsCancer genomics
spellingShingle Kathleen Wee
Kevin C. Yang
David F. Schaeffer
Chen Zhou
Emily Leung
Xiaolan Feng
Janessa Laskin
Marco A. Marra
Jonathan M. Loree
Sharon M. Gorski
Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
Scientific Reports
Neuroendocrine neoplasms
Genomics
Personalized medicine
Transcriptomics
Cancer genomics
title Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
title_full Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
title_fullStr Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
title_full_unstemmed Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
title_short Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
title_sort genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications
topic Neuroendocrine neoplasms
Genomics
Personalized medicine
Transcriptomics
Cancer genomics
url https://doi.org/10.1038/s41598-025-00549-7
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