ArticleNature communications2025
Whole genome sequencing improves tissue-of-origin diagnosis and treatment options for cancer of unknown primary.
Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Cancer of unknown primary: the evolution of tissue of origin identification in the artificial intelligence era.Biomarker research · 2026Review
- A unified vision-language model for precision oncology and biomarker prediction in neuroblastoma.Nature communications · 2026Article
- Hepatic metastasis of mucinous adenocarcinoma with neuroendocrine differentiation harboring a rare HER2 R678Q mutation: a case report and literature review.Frontiers in oncology · 2026Article
- The role of AI-powered molecular profiling in the diagnosis and management of cancers of unknown primary: a case report and literature review.Frontiers in oncology · 2026Article
- Management and survival of patients with cancer of unknown primary discussed by a French national multidisciplinary tumour board: a retrospective analysis.The Lancet regional health. Europe · 2026Article
- Cancer of unknown primary genomic profiling from cell-free DNA provides insights into CUP biology and vulnerabilities.Frontiers in medicine · 2026Article
- Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors.Genome medicine · 2025Article
- Rethinking cancer of unknown primary: from diagnostic challenge to targeted treatment.Nature reviews. Clinical oncology · 2025Review
- In Search of Ideal Solutions for Cancer Diagnosis: From Conventional Methods to Protein Biomarkers in Liquid Biopsy.Proteomes · 2025Review
- Whole genome sequencing improves tissue-of-origin diagnosis and treatment options for cancer of unknown primary.Nature communications · 2025Article
- Impact of whole genome sequencing on the care pathway for patients with cancer of unknown primary.ESMO open · 2025Article
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41 authors.
Funding
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Abstract
Genomics can inform both tissue-of-origin (TOO) and precision treatments for patients with cancer of unknown primary (CUP). Here, we use whole genome and transcriptome sequencing (WGTS) for 72 patients and show diagnostic superiority of WGTS over panel testing (386-523 genes) in 71 paired cases. WGTS detects all reportable DNA features found by panel as well as additional mutations of diagnostic or therapeutic relevance in 76% of cases. Curated WGTS features and a CUP prediction algorithm (CUPPA) trained on WGTS data of known cancer types informs TOO in 71% of cases otherwise undiagnosed by clinicopathology review. WGTS informs treatments for 79% of patients, compared to 59% by panel testing. Finally, WGS of cell-free DNA (cfDNA) from patients with a high cfDNA tumour fraction (>7%), enables high-likelihood CUPPA predictions in 41% of cases. WGTS is therefore superior to panel testing, broadens treatment options, and is feasible using routine pathology samples and cfDNA.
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