ArticleESMO open2022
Complete genomic characterization in patients with cancer of unknown primary origin in routine diagnostics.
Article in ESMO open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Imaging of cancer of unknown primary: a systematic literature review of the past, present, and future.The British journal of radiology · 2025Pooled it
- Identifying the primary tumour in patients with cancer of unknown primary (CUP) using [European journal of nuclear medicine and molecular imaging · 2024Pooled it
- Cancer of unknown primary: the evolution of tissue of origin identification in the artificial intelligence era.Biomarker research · 2026Review
- Integrating artificial intelligence into cancers of unknown primary diagnosis and treatment.iScience · 2026Review
- Real-world clinical utility of tumor whole-genome sequencing in solid cancers.Nature medicine · 2026Article
- Genome-wide classification of tumor-derived reads from bulk long-read sequencing.bioRxiv : the preprint server for biology · 2026Article
- Cancer of unknown primary genomic profiling from cell-free DNA provides insights into CUP biology and vulnerabilities.Frontiers in medicine · 2026Article
- Tumor Genomic and Transcriptomic Analysis Integrated With Liquid Biopsy ctDNA Monitoring: Analytical Validation and Clinical Insights.Cancer medicine · 2025Article
- 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
- 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
- Added value of body MRI to detect primary abdominal malignancies in the diagnostic work-up of patients with adenocarcinoma of unknown primary.European radiology · 2025Article
- ONCOLINER: A new solution for monitoring, improving, and harmonizing somatic variant calling across genomic oncology centers.Cell genomics · 2024Article
- Current and future trends in whole genome sequencing in cancer.Cancer biology & medicine · 2024Review
- Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients.NPJ precision oncology · 2023Article
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn ∼3%-5% of patients with metastatic disease, tumor origin remains unknown despite modern imaging techniques and extensive pathology work-up. With long diagnostic delays and limited and ineffective therapy options, the clinical outcome of patients with cancer of unknown primary (CUP) remains poor. Large-scale genome sequencing studies have revealed that tumor types can be predicted based on distinct patterns of somatic variants and other genomic characteristics. Moreover, actionable genomic events are present in almost half of CUP patients. This study investigated the clinical value of whole genome sequencing (WGS) in terms of primary tumor identification and detection of actionable events, in the routine diagnostic work-up of CUP patients. PATIENTS AND
methodsA WGS-based tumor type 'cancer of unknown primary prediction algorithm' (CUPPA) was developed based on previously described principles and validated on a large pan-cancer WGS database of metastatic cancer patients (>4000 samples) and 254 independent patients, respectively. We assessed the clinical value of this prediction algorithm as part of routine WGS-based diagnostic work-up for 72 CUP patients.
resultsCUPPA correctly predicted the primary tumor type in 78% of samples in the independent validation cohort (194/254 patients). High-confidence predictions (>95% precision) were obtained for 162/254 patients (64%). When integrated in the diagnostic work-up of CUP patients, CUPPA could identify a primary tumor type for 49/72 patients (68%). Most common diagnoses included non-small-cell lung (n = 7), gastroesophageal (n = 4), pancreatic (n = 4), and colorectal cancer (n = 3). Actionable events with matched therapy options in clinical trials were identified in 47% of patients.
conclusionsGenome-based tumor type prediction can predict cancer diagnoses with high accuracy when integrated in the routine diagnostic work-up of patients with metastatic cancer. With identification of the primary tumor type in the majority of patients and detection of actionable events, WGS is a valuable diagnostic tool for patients with CUP.
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