Diagnostic Utility of a 90-Gene Expression Assay (Canhelp-Origin) for Patients with Metastatic Cancer with an Unclear or Unknown Diagnosis

Peng Qi ^1,2, Yifeng Sun ^2,3,4, Yue Pang ^1,2

¹Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China.
²Department of Oncology, Shanghai Medical College, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China.
³Shanghai Key Laboratory of Medical Epigenetics, Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, People's Republic of China.
⁴Canhelp Genomics Research Center, Canhelp Genomics Co., Ltd., No.22 Xinyan Road, Hangzhou, 310000, People's Republic of China.
⁵Canhelp Genomics Research Center, Canhelp Genomics Co., Ltd., No.22 Xinyan Road, Hangzhou, 310000, People's Republic of China. qinghua.xu@canhelpgenomics.com.
⁶Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China. wangqifeng19821982@126.com.
⁷Department of Oncology, Shanghai Medical College, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China. wangqifeng19821982@126.com.
⁸Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China. 13524324387@163.com.
⁹Department of Oncology, Shanghai Medical College, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China. 13524324387@163.com.

⁰Department of Pathology, Fudan University Shanghai Cancer Center, Fudan University, No. 270 Dongan Road, Shanghai, 200032, People's Republic of China.

Molecular Diagnosis & Therapy +

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September 27, 2024

View abstract on PubMed

Summary

A 90-gene expression assay accurately identified tumor origins in 97.4% of metastatic cancer patients with unknown primary tumors, aiding diagnosis and treatment selection for improved patient outcomes.

Area Of Science

Oncology
Molecular Diagnostics
Genomics

Background

Metastatic cancers of unknown primary present diagnostic and management challenges, often leading to poor outcomes.
A 90-gene expression assay has shown promise in predicting primary tumor origin and guiding site-specific therapy.

Purpose Of The Study

To evaluate the clinical effectiveness of a 90-gene expression assay for diagnosing patients with unclear or unknown primary metastatic cancers.

Main Methods

The study analyzed patients who underwent a 90-gene expression assay as part of standard care.
Data collected included demographics, tumor characteristics, and clinical history.
Assay performance was assessed by comparing predicted tumor types with final histopathological diagnoses.

Main Results

The 90-gene expression assay identified a molecular tumor type in 97.4% (295/303) of cases.
Overall agreement with histopathology was 88.5% (170/192).
The assay confirmed suspected diagnoses in 90.7% of single-suspicion cases and narrowed differential diagnoses in 82.7% of cases.

Conclusions

The 90-gene expression assay significantly impacts diagnosis and treatment selection for challenging cancer cases.
It serves as a valuable molecular tool to streamline diagnostic testing for metastatic cancers of unknown origin.
Further prospective studies are needed to confirm if molecular classifiers improve clinical outcomes.