Detecting residual or recurrent neuroblastoma with a blood test

Researchers at The Saban Research Institute of Children’s Hospital Los Angeles (CHLA) have developed and tested a new biomarker assay for quantifying disease and detecting the presence of neuroblastoma even when standard evaluations yield negative results for the disease. 

Detecting residual or recurrent disease in young neuroblastoma patients after their initial treatment is currently difficult. It relies on scans (CT, MRI and MIBG) and bone marrow evaluation and is relatively insensitive and may not detect early recurrence.

The researchers have developed a new assay that screens for five different neuroblastoma-associated genes in a blood sample all at the same time. They have also carried out a systematic comparison of standard imaging evaluations versus the gene assay and shown that the new assay improves disease assessment and provides prediction of disease progression. Neuroblastoma is a cancer of the nervous system that exists outside the brain and typically is diagnosed in children 5 years or age or younger. Forty-five percent of patients have high-risk, metastatic tumors (stage 4) when diagnosed.

While children with neuroblastoma often respond to therapy and many are declared to be in a “remission” based on standard tests, many will still relapse. “Clearly, there is some remaining tumor in the body that we cannot detect with standard tests and physicians have a hard time predicting if a patient is likely to relapse,” said Dr. Marachelian, one of the lead researchers who is medical director of the New Approaches to Neuroblastoma (NANT) consortium, headquartered at CHLA.

“With imaging scans, disease that is starting to grow versus disease that is getting better can look very similar when you first look,” explained Dr. Marachelian. “This assay could have the potential to be like an advance warning system – we can see if things are getting worse and be poised to take action. Alternately, if we see things are getting better or the disease is no longer detectable even with this very sensitive test, we can decrease the treatment to protect the patient from unnecessary exposure to toxicity and side effects.”

The assay has been incorporated into all of NANT’s national trials with patient samples being sent to CHLA for analysis. The next step will be to validate its ability to support treatment decisions with the goal of the assay becoming a standard clinical evaluation.

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