Open AccessDefining a Distinct Immunotherapy Eligible Subset of Patients with Cancer of Unknown Primary Using Gene Expression Profiling with the 92‐Gene Assay
Author(s) -
Raghav Kanwal,
Overman Michael,
Poage Graham M.,
Soifer Harris S.,
Schnabel Catherine A.,
Varadhachary Gauri R.
Publication year - 2020
Publication title -
the oncologist
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.176
H-Index - 164
eISSN - 1549-490X
pISSN - 1083-7159
DOI - 10.1634/theoncologist.2020-0234
Subject(s) - medicine , immunotherapy , lung cancer , gene expression profiling , oncology , cancer , primary tumor , head and neck squamous cell carcinoma , head and neck cancer , gene , cancer research , bioinformatics , gene expression , metastasis , biology , genetics
Background Although recent advances in immunotherapy have transformed the treatment landscape for many anatomically defined cancers, these therapies are currently not approved for patients diagnosed with cancer of unknown primary (CUP). Molecular cancer classification using gene expression profiling (GEP) assays has the potential to identify tumor type and putative primary cancers and thereby may allow consideration of immune checkpoint inhibitor (ICI) therapy options for a subset of patients with CUP. Herein, we evaluated and characterized the ability of a 92‐gene assay (CancerTYPE ID) to provide a molecular diagnosis and identify putative tumor types that are known to be sensitive to ICI therapies in patients with CUP or uncertain diagnosis. Findings A total of 24,426 cases from a large‐scale research database of 92‐gene assay clinical cases were classified, of which 9,350 (38%) were predicted to have an ICI‐eligible tumor type. All ICIs with approved indications as of March 2020 were included in the analysis. Non‐small cell lung cancer (NSCLC) was the most frequent molecular diagnosis and accounted for 33% of the ICI‐eligible tumor types identified and 13% of the overall reportable results. In addition to NSCLC, the assay also frequently identified urothelial carcinomas, gastric cancer, and head and neck squamous cell carcinoma. The distributions of identified tumor types with indications for ICI therapy were similar across age and gender. Conclusions Results suggest that molecular profiling with the 92‐gene assay identifies a subset of ICI‐eligible putative primary cancers in patients with CUP. We propose a treatment strategy based on available tests, including clinicopathologic features, GEP, and ICI biomarkers of response.