ArticleJournal of translational medicine2022
Clinical validation of a 90-gene expression test for tumor tissue of origin diagnosis: a large-scale multicenter study of 1417 patients.
Article in Journal of translational medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- New techniques to identify the tissue of origin for cancer of unknown primary in the era of precision medicine: progress and challenges.Briefings in bioinformatics · 2024Pooled it
- Cancer of unknown primary: the evolution of tissue of origin identification in the artificial intelligence era.Biomarker research · 2026Review
- Clinicopathologic characteristics of uterine malignant epithelioid neoplasms with EWSR1::CREM fusion: Report of 2 cases at a novel site with literature review.Virchows Archiv : an international journal of pathology · 2026Article
- Molecular-Guided Precision Oncology in Cancer of Unknown Primary: A State-of-the-Art Perspective.Journal of personalized medicine · 2026Review
- Machine learning-driven proteomics classifier deciphers tumor origins of primary and metastatic squamous cell carcinomas.Biomarker research · 2026Article
- Case Report: Site-specific therapy guided by the 90-gene expression assay in cancer of unknown primary: lenvatinib plus camrelizumab for occult renal cell carcinoma.Frontiers in oncology · 2026Article
- Extracting Histologic Features to Distinguish Primary and Metastatic Squamous Cell Carcinoma of the Lung.Pathology international · 2026Article
- Diagnosis and management of axillary lymph node metastasis from an unknown primary carcinoma: a case report.Frontiers in oncology · 2026Article
- Clinical application of 90-gene expression test in a patient with occult breast cancer: a case report and literature review.Breast cancer (Tokyo, Japan) · 2025Review
- ARID1A-Deficient and 11q13-Amplified Metastatic Pancreatic Cancer Initially Presenting as Retroperitoneal Fibrosis in a Patient with Familial CHEK2 Variant.Diagnostics (Basel, Switzerland) · 2025Article
- Advancements in Diagnostics and Therapeutics for Cancer of Unknown Primary in the Era of Precision Medicine.MedComm · 2025Review
- Diagnostic Utility of a 90-Gene Expression Assay (Canhelp-Origin) for Patients with Metastatic Cancer with an Unclear or Unknown Diagnosis.Molecular diagnosis & therapy · 2025Article
- Metastatic squamous cell carcinoma of unknown primary: a case report and brief literature review.Frontiers in oncology · 2025Article
- Gene expression profiling for the diagnosis of male breast cancer.BMC cancer · 2024Article
- Comprehensive analysis of cancer of unknown primary and recommendation of a histological and immunohistochemical diagnostic strategy from China.BMC cancer · 2023Article
- A Systematic Review of Diagnostic and Prognostic Biomarkers for Head and Neck Cancer of Unknown Primary: An Unmet Clinical Need.Diagnostics (Basel, Switzerland) · 2023Review
- Identification of functional pathways and molecular signatures in neuroendocrine neoplasms by multi-omics analysis.Journal of translational medicine · 2022Article
- Utility of RNA Expression to Determine the Tissue of Origin of Malignancies with an Inconclusive Histopathology.Case reports in oncologyArticle
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Abstract
backgroundOnce malignancy tumors were diagnosed, the determination of tissue origin and tumor type is critical for clinical management. Although the significant advance in imaging techniques and histopathological approaches, the diagnosis remains challenging in patients with metastatic and poorly differentiated or undifferentiated tumors. Gene expression profiling has been demonstrated the ability to classify multiple tumor types. The present study aims to assess the performance of a 90-gene expression test for tumor classification (i.e. the determination of tumor tissue of origin) in real clinical settings.
methodsFormalin-fixed paraffin-embedded samples and associated clinicopathologic information were collected from three cancer centers between January 2016 and January 2021. A total of 1417 specimens that met quality control criteria (RNA quality, tumor cell content ≥ 60% and so on) were analyzed by the 90-gene expression test to identify the tumor tissue of origin. The performance was evaluated by comparing the test results with histopathological diagnosis.
resultsThe 1417 samples represent 21 main tumor types classified by common tissue origins and anatomic sites. Overall, the 90-gene expression test reached an accuracy of 94.4% (1338/1417, 95% CI: 0.93 to 0.96). Among different tumor types, sensitivities were ranged from 74.2% (head&neck tumor) to 100% (adrenal carcinoma, mesothelioma, and prostate cancer). Sensitivities for the most prevalent cancers of lung, breast, colorectum, and gastroesophagus are 95.0%, 98.4%, 93.9%, and 90.6%, respectively. Moreover, specificities for all 21 tumor types are greater than 99%.
conclusionsThese findings showed robust performance of the 90-gene expression test for identifying the tumor tissue of origin and support the use of molecular testing as an adjunct to tumor classification, especially to those poorly differentiated or undifferentiated tumors in clinical practice.
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