Wee Kathleen, Yang Kevin C, Schaeffer David F, Zhou Chen, Leung Emily, Feng Xiaolan, Laskin Janessa, Marra Marco A, Loree Jonathan M, Gorski Sharon M
Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.
Division of Anatomic Pathology, Vancouver General Hospital, Vancouver, BC, Canada.
Sci Rep. 2025 May 6;15(1):15770. doi: 10.1038/s41598-025-00549-7.
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.
神经内分泌肿瘤（NENs）是一组高度异质性的肿瘤，具有不同的预后和分子改变。分子谱分析研究加深了我们对NENs的理解，但之前的大多数研究都集中在原发性肿瘤以及使用DNA测序数据的突变图谱上。在此，我们描述了28例不同原发解剖部位（PASs）的转移性NENs的基因组和转录组图谱及其潜在的临床意义。尽管我们的队列规模较小，但我们的分析为不同PASs的转移性NENs之间的分子共性和差异提供了进一步的见解。与几个参考转录组数据集的比较显示，尽管NENs在全基因组和转录组方面存在相当大的变异性，但转移性NENs彼此之间仍然比其他癌症类型更为相似。我们的研究还强调了NEN转录组数据在分子分类和临床决策中的潜在效用。
