Tumor Profiling Test Paves Way for Personalized Cancer Therapies
New JCO Precision Oncology study finds tissue of origin identification and comprehensive molecular profiling expands therapy choices for patients with unclear cancer diagnoses
In the complex landscape of oncology, cancer of unknown primary (CUP) can be particularly challenging, presenting healthcare providers with metastatic cancers whose origins are not clinically identifiable. This disease, accounting for 1%-5% of all metastatic cancers, is the fourth leading cause of cancer-related deaths globally.1-4
While patients diagnosed with CUP have traditionally faced unfavorable prognoses, advancements in site-specific therapies guided by standard pathology and molecular testing are offering new avenues for improved outcomes.
Recent studies have explored the use of genomic profiling to guide targeted treatments based solely on genomic alterations, but the results have been somewhat limited. Studies including about 3,300 patients revealed that only about 5%-20% had an actionable genomic alteration and received matched therapies,5-9 while another study analyzing gene alterations in 1,709 patients with CUP found that about 25% had actionable gene alterations.10 The use of targeted therapies based on genomic alteration alone further poses challenges due to varying response rates across cancer types, and most Food and Drug Administration (FDA)-approved uses are specific to particular cancers.11,12
Considering these challenges, a dual approach that combines primary tumor identification with comprehensive biomarker analysis to identify genomic alterations emerges as a promising pathway. This integrated method has the potential to uncover a broader range of treatment options, offering the possibility of more effective and personalized interventions for patients.
A test that shows promise
The CancerTYPE ID® 92-gene assay is a gene-expression profiling (GEP) test that has shown promise in identifying tumor types in patients with CUP. In a recent study published in JCO Precision Oncology involving 3,168 patients with CUP or unclear diagnoses, the CancerTYPE ID test detected the type of tumor in 92.5% of cases, allowing doctors to prescribe more targeted, site-specific therapies.13 The study revealed that for 24.6% of patients with a molecularly diagnosed cancer type, a cancer-specific FDA-approved or investigational targeted therapy was potentially available.13
These findings demonstrate the complex nature of CUP cases and have the potential to help many healthcare providers identify targeted treatment options for current and future patients.
“Tumor-agnostic targeted therapies — or treatments that are based on a cancer’s genetic or molecular features without regard to cancer type or origin — are not FDA-approved for the first line of treatment for CUP patients,” said Jennifer Schneiders, PhD, President of Diagnostic Solutions. “This is another reason why identifying the primary cancer site remains crucial for expanding available options and determining the most effective treatment for patients.”
Taking a dual approach
For comprehensive treatment planning and care, studies point toward pairing origin identification tests like CancerTYPE ID® with broader genomic profiling tests, such as the NeoTYPE Cancer Profiles from Neogenomics, a partner laboratory of Biotheranostics.13
The importance of this dual approach is reinforced by clinical evidence showing that CUP patients treated with site-specific therapies based on tests like CancerTYPE ID® have notably better outcomes than those receiving empiric chemotherapy treatment.14-21 Additional treatment options based on accurate tumor identification may help bridge the treatment gap between CUP and known cancer types.
This latest research supports the integration of CancerTYPE ID® testing into the standard diagnostic workup for patients with CUP, which may help more patients gain access to FDA-approved targeted therapies specific to their cancer type or improve their eligibility for relevant clinical trials.10