Background: The incidence of multiple primary malignant tumors (MPMTs) is rising due to the development of screening technologies, significant treatment advances and the increased aging of the population. For patients with a prior cancer history, distinguishing tumor recurrence or metastasis from a second malignant tumor has important prognostic and therapeutic implications and still represents a difficult problem in clinical practice. Methods: In this study, we evaluated the performance of a 90-gene expression assay and explored its potential diagnostic utility for MPMTs across a broad spectrum of tumor types. Twenty-four MPMT patients from Sir Run Run Shaw Hospital, college of medicine, Zhejiang University were enrolled in this study. A total of 51 MPMT specimens met all quality control criteria and were analyzed by the 90-gene expression assay. Results: For each clinical specimen, the tumor type predicted by the 90-gene expression assay was compared with its reference diagnosis with an overall accuracy of 94.1% (48 of 51, 95% confidence interval: 0.83-0.98). Additionally, the hierarchical clustering of 90-gene expression profiling in 51 specimens revealed MPMT samples were grouped together depending on tumor types or system types rather than individual MPMT patients. Conclusions: Therefore, the 90-gene expression assay provides flexibility and accuracy in identifying the tissue origin of MPMTs, especially in squamous cell carcinoma. Future incorporation of the 90-gene expression assay in the pathological diagnosis will assist oncologists in applying precise treatments, leading to improved care and outcomes for MPMT patients.
Background: The incidence of multiple primary malignant tumors (MPMTs) is rising due to the development of screening technologies, significant treatment advances and increased aging of the population. For patients with a prior cancer history, identifying the tumor origin of the second malignant lesion has important prognostic and therapeutic implications and still represents a difficult problem in clinical practice. Methods: In this study, we evaluated the performance of a 90-gene expression assay and explored its potential diagnostic utility for MPMTs across a broad spectrum of tumor types. Thirty-five MPMT patients from Sir Run Run Shaw Hospital, College of Medicine, Zhejiang University and Fudan University Shanghai Cancer Center were enrolled; 73 MPMT specimens met all quality control criteria and were analyzed by the 90-gene expression assay. Results: For each clinical specimen, the tumor type predicted by the 90-gene expression assay was compared with its pathological diagnosis, with an overall accuracy of 93.2% (68 of 73, 95% confidence interval: 0.84-0.97). For histopathological subgroup analysis, the 90-gene expression assay achieved an overall accuracy of 95.0% (38 of 40; 95% CI, 0.82-0.99) for well-moderately differentiated tumors and 92.0% (23 of 25; 95% CI, 0.82-0.99) for poorly or undifferentiated tumors, with no statistically significant difference (p-value > 0.5). For squamous cell carcinoma specimens, the overall accuracy of gene expression assay also reached 87.5% (7 of 8; 95% CI, 0.47-0.99) for identifying the tumor origins. Conclusions: The 90-gene expression assay provides flexibility and accuracy in identifying the tumor origin of MPMTs. Future incorporation of the 90-gene expression assay in pathological diagnosis will assist oncologists in applying precise treatments, leading to improved care and outcomes for MPMT patients.
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