Expanded Genomic Testing to Benefit Patients with Cancer
Expanded Genomic Testing to Benefit Patients with Cancer

New York, 18 May (ONA) --- New findings from researchers at Memorial Sloan Kettering Cancer Center (MSK) in New York published in the journal Nature Communications report today the results of using a comprehensive sequencing approach on 114 pediatric, adolescent, and young adult patients with solid tumors.

The researchers found that their approach identified at least one additional cancer-associated oncogenic variant in 54% of patients (62 out of 114), compared with the current standard genetic sequencing test MSK-IMPACT. Of these, 33 patients had one or more findings that were of direct clinical or potentially actionable relevance.

DNA sequencing tests that look for mutations in cancer-associated genes have become a standard of care at leading centers, including at MSK. The MSK test, called MSK-IMPACT, can detect mutations in 500-plus cancer-related genes.

From this information, doctors can then determine if an available drug might benefit a particular patient, based on the tumor's genetic profile.

This cancer-gene-panel approach works very well for adults with common types of cancer, like breast, colorectal, lung, and prostate cancer. But for rare cancers in children and young adults, these panel tests have not been as useful for matching patients to appropriate therapies. That is because, as researchers are coming to realize, the types of mutations that drive tumors in young patients tend to be different than those in adult patients.

To better visualize these structural variants, researchers need a way of reading not only the changes to the spellings of particular "words," or cancer genes, but also the organization of those words in the context of paragraphs and chapters. That's what a technique called whole genome DNA and RNA sequencing provides, and the researchers believe it may make an important difference in the care of children with cancer.

The researchers emphasize that the new platform is not currently a replacement for panel-based tests, such as MSK-IMPACT, which work well for capturing relevant mutations in adult patients with common tumors—and have made a difference in their outcomes.

The study authors say the benefits for pediatric patients are so compelling that this type of testing is now being made available to every pediatric patient at MSK through philanthropic funding.

--- Ends/Thuraiya/Khalid