Integrative single-cell and spatial transcriptomics with explainable AI reveal lethal prognostic axis in prostate cancer
Prostate cancer (PCa) remains clinically heterogeneous. We integrated single-cell and spatial transcriptomics with explainable machine learning to define a lethal tumor axis and establish an interpretable prognostic model. From 141,986 high-quality single cells spanning localized, hormone-sensitive, and castration-resistant PCa, we identified a malignant C4 epithelial subpopulation characterized by high chromosomal instability, androgen receptor and cell-cycle activation, and stemness potential. Spatial mapping further revealed immune-enriched yet suppressive niches, where fibroblasts and myeloid cells coexisted with exhausted lymphocytes, reflecting functional immune imbalance. We benchmarked 101 machine learning pipelines, selecting a Lasso plus PLS-Cox model that achieved strong concordance across independent cohorts. The C4-based risk score independently predicted recurrence-free survival after adjustment for age, Gleason score and T stage, and a nomogram combining this score with clinical variables showed good discrimination. SHAP interpretation highlighted MT1M, PCSK1N, and ACSL3 as major risk-driving features. PCSK1N was progressively upregulated from normal prostate to castration-resistant disease and promoted proliferation, clonogenicity, migration and enzalutamide resistance, while its inhibition sensitized organoids and xenografts to AR-targeted therapy. These findings define a C4-centered lethal tumor axis and provide an explainable, experimentally supported framework for prognostic stratification in PCa.
Authors
- Yonghao Chen (ORCID: https://orcid.org/0000-0003-0205-1816)
- Mierxiati Abudurexiti (ORCID: https://orcid.org/0000-0002-5909-6663)
- Youzhao Zhang
- Zhenda Wang
- YangYun Wang
- Wenhao Xu (ORCID: https://orcid.org/0000-0001-6878-4663)
- Dingwei Ye (ORCID: https://orcid.org/0000-0003-0704-7453)
- Zhongyuan Wang (ORCID: https://orcid.org/0009-0002-8553-5727)
- Q X Ge
- Wenkai Zhu
- Zhong Wang
- Tonghui Chu
Institutions
- Second Military Medical University (CN)
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
- Fudan University Shanghai Cancer Center (CN)
- The Pelvic Floor Institute (US)
- Shanghai Pudong New Area Gongli Hospital (CN)
- Kashi University (CN)
Publication Details
- Journal
- npj Digital Medicine
- Published
- 2026-01-06
- DOI
- https://doi.org/10.1038/s41746-025-02297-4
- Primary Topic
- Single-cell and spatial transcriptomics
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Xinjiang