This study will enroll patients with metastatic malignancies. Tumor samples (fresh or formalin-fixed paraffin-embedded tissue specimens) will undergo RNA extraction and next-generation sequencing (RNA-seq). Once the raw data is obtained, the system will analyze the transcriptomic feature values (cancer-specific RNA transcripts and tissue-specific RNA transcripts) expressed in the tumor tissue samples to further predict tissue origin using a machine learning model. The output includes probabilities and confidence intervals for tissue origin.
Clinically confirmed diagnosis of malignant tumor with metastasis;
Metastatic lesions confirmed as malignant by histopathology;
Sufficient surgical resection or biopsy specimens retained to meet the requirements for next-generation sequencing;
The participant (or their legal representative/guardian) has signed the informed consent form, confirming full understanding of the study's purpose and procedures, and voluntarily agrees to participate.
None
Patients treated in Fudan University Shanghai Cancer Center, encompassing both outpatient and inpatient populations.
Case-only
Prospective
Not listed
The accuracy of the transcriptomic profiling for tumor tissue origin identification in predicting the primary site of metastatic tumors
Overall accuracy of the tumor tissue origin tracing transcriptome test for predicting the primary site of metastatic tumors (number of correct predictions/total evaluable cases); Specificity \[true negatives/(true negatives + false positives)\]; Sensitivity \[true positives/(true positives + false negatives)\].
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