Conserved neuronal-like and secretory programs define the spatial architecture of gastroenteropancreatic neuroendocrine tumors
Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are clinically heterogeneous malignancies whose biology and microenvironmental organization remain poorly understood. Here, we integrated single-nucleus multiomic (snRNA-seq and snATAC-seq) and spatial transcriptomic profiling across 38 well-differentiated pancreatic (PanNET) and small-intestinal (siNET) tumors to define conserved malignant programs, their regulatory circuits, and spatial niches. We observed two conserved malignant cell programs spanning a continuous transcriptional spectrum: a neuronal-like program, and a secretory neuroendocrine program. Matched chromatin accessibility profiles uncovered distinct, tissue-specific regulatory networks, including MAX::MYC and MITF transcription factor binding motifs in siNETs versus ISL1 and TFAP4 in PanNETs, indicating organ-specific epigenetic control. Spatial transcriptomic analyses revealed that neuronal-like-high regions localized to densely cellular tumor areas with relative depletion of stromal infiltration, whereas secretory neuroendocrine-high regions occupied fibrovascular and stromal niches enriched for endothelial, fibroblast, and myeloid populations, and associated with TGFB1-ITGB1, VEGFA-FLT1, and LAMA2-ITGA1 signaling. Across both tumor types, the cNMF2 program was enriched in metastatic lesions and was enriched for pro-fibrotic and pro-angiogenic gene signatures. Thus, GEP-NETs are organized along a conserved neuronal-to-secretory axis defined by distinct epigenetic programs and spatially coupled to specific microenvironmental niches. This framework unifies NET heterogeneity across organ sites and identifies pathway-specific, microenvironment-linked vulnerabilities for therapeutic targeting.
Authors
- Erica Pimenta (ORCID: https://orcid.org/0000-0002-9684-6486)
- Dan Y. Gui (ORCID: https://orcid.org/0009-0003-9976-6435)
- Lauren K. Brais (ORCID: https://orcid.org/0000-0003-1069-0407)
- Eliezer M. Van Allen (ORCID: https://orcid.org/0000-0002-0201-4444)
- Hannah I. Hoffman (ORCID: https://orcid.org/0000-0002-6449-6944)
- Samantha E. Hoffman (ORCID: https://orcid.org/0000-0002-6752-172X)
- Kevin Bi (ORCID: https://orcid.org/0000-0002-6794-1804)
- Erin Shannon (ORCID: https://orcid.org/0000-0001-8112-2373)
- Θεοδώρα Παππά (ORCID: https://orcid.org/0000-0001-5336-9117)
- Jason L. Hornick (ORCID: https://orcid.org/0000-0001-6475-8345)
- Julie Karam
- Laura Valderrábano
- Riaz Gillani (ORCID: https://orcid.org/0000-0001-8643-2725)
- Jihye Park (ORCID: https://orcid.org/0000-0002-4451-2046)
- Yutaro Tanaka (ORCID: https://orcid.org/0009-0004-1060-7065)
- Amanda Garza
- Jihye Park
- Julie Karam
- Erica Pimenta
- Riaz Gillani
- Breanna M. Titchen
- Jennifer Chan
Institutions
- Broad Institute (US)
- Brigham and Women's Hospital (US)
- Boston Children's Hospital (US)
- Joslin Diabetes Center (US)
- Harvard University (US)
- Harvard University Press (US)
- Harvard–MIT Division of Health Sciences and Technology (US)
- Dana-Farber Cancer Institute (US)
Publication Details
- Journal
- Journal of Clinical Investigation
- Published
- 2026-09-01
- DOI
- https://doi.org/10.1172/jci204119
- Primary Topic
- Neuroendocrine Tumor Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Brigham and Women's Hospital
- Broad Institute
- Robert O. and Annamae Orr Family Foundation
- National Institutes of Health
- National Institute of General Medical Sciences