Gene expression profiling for the diagnosis of multiple primary malignant tumors

Abstract

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.

Synchronous Double Primary Tumors of Liver (Small Cell Neuroendocrine Carcinoma and Hepatocellular carcinoma): A Case Report

“…The treatment methods of malignant tumors were developed rapidly, such as radiotherapy, chemotherapy, endocrine therapy, targeted therapy and immunotherapy and so on, the survival rate of MPMTs patient is increasing, but the median survival of neuroendocrine combined with hepatic cancer was only about 17.8 months, and the quality of life is not well, hepatitis viral infection and tumor recurrence time maybe the most influencing factor of survival time. 7 , 8 By now, there are no standard treatment guidelines for MPMTs.…”

Clinical analysis of multiple primary gastrointestinal malignant tumors: A 10-year case review of a single-center

“…A review of from 2919023 malignant cancers in 69 European cancer registries revealed 183683 cases of MPMTs, representing an overall incidence of 6.3%, ranging geographically from 0.4% (Italy) to 12.9% (Iceland)[ 12 ]. In China, different studies have reported incidence rates of MPMTs varying between 0.4% and 3.66%[ 13 ]. Zhai et al [ 7 ] found that the ratio of MPMTs sites in the same system was 27.54%, 93.48% of which were in the digestive system.…”

Synchronous double primary tumors of liver (small cell neuroendocrine carcinoma and hepatocellular carcinoma)：A case report

“…The treatment methods of malignant tumors were developed rapidly, such as radiotherapy, chemotherapy, endocrine therapy, targeted therapy and immunotherapy and so on, the survival rate of MPMTs patient is increasing, but the median survival of neuroendocrine combined with hepatic cancer was only about 17.8 months, and the quality of life is not well, hepatitis viral infection and tumor recurrence time maybe the most in uencing factor of survival time (7)(8). By now, there are no standard treatment guidelines for MPMTs.…”