Gene expression profiling for the diagnosis of multiple primary malignant tumors

• Published in: Cancer cell international Vol. 21; no. 1; p. 47
• Main Authors: Zheng, Yu, Sun, Yifeng, Kuai, Yue, Fu, Guoxiang, An, Huimin, Chen, Jinyun, Chen, Jinying, Zhu, Jiajun, Wo, Yixin, Wu, Yiwang, Song, Kaibin, Xu, Qinghua, Wu, Di, Huang, Deshuang, Wang, Qifeng, Pan, Hongming
• Format: Journal Article
• Language: English
• Published: England BioMed Central 12.01.2021; BMC
• Subjects: 90-gene expression assay; Gene expression profiling; Multiple primary malignant tumors; Primary Research; qRT-PCR; Tissue of origin; Multiple primary malignant tumors; 90-gene expression assay; Tissue of origin; Gene expression profiling; qRT-PCR
• ISSN: 1475-2867; 1475-2867
• DOI: 10.1186/s12935-021-01748-8

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. 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. 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. 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.