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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.
This is a non-interventional, observational study. Through a single-center, prospective clinical trial, the study aims to utilize the transcriptomic profiling for tumor tissue origin identification to predict the tissue origin of primary sites in metastatic tumors and evaluate the accuracy and specificity of this prediction solution.
Primary Endpoint:
The accuracy of the transcriptomic profiling for tumor tissue origin identification in predicting the primary site of metastatic tumors (expressed as overall accuracy with its 95% confidence interval).
Secondary Endpoints:
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| Measure | Description | Time Frame |
|---|---|---|
| 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)]. | through study completion, an average of 1 year |
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Inclusion Criteria
Exclusion Criteria:
1. The investigator deems the patient unable to provide informed consent.
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Patients treated in Fudan University Shanghai Cancer Center, encompassing both outpatient and inpatient populations.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Zhiao Chen, Ph.D. | Contact | 008618017312074 | zachen@fudan.edu.cn |
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| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 37697439 | Background | Shi Q, Li X, Liu Y, Chen Z, He X. FLIBase: a comprehensive repository of full-length isoforms across human cancers and tissues. Nucleic Acids Res. 2024 Jan 5;52(D1):D124-D133. doi: 10.1093/nar/gkad745. | |
| 35473935 | Background | Shi Q, Liu T, Hu W, Chen Z, He X, Li S. SRTdb: an omnibus for human tissue and cancer-specific RNA transcripts. Biomark Res. 2022 Apr 26;10(1):27. doi: 10.1186/s40364-022-00377-1. |
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Samples will be collected from patients who have been screened, enrolled, and have signed informed consent forms. Detectable sample types include fresh tissue samples, biopsy tissue samples, and formalin-fixed, paraffin-embedded (FFPE) tissue samples.
| 33288500 | Background | Lee MS, Sanoff HK. Cancer of unknown primary. BMJ. 2020 Dec 7;371:m4050. doi: 10.1136/bmj.m4050. |