Molecular Tumor Profiling Benefits Pediatric Cancer Patients

By LabMedica International staff writers
Posted on 27 Jun 2022

Image: The INVIEW Oncopanel All-in-one is the most comprehensive gene panel available for optimized detection of tumor-specific genomic alterations (Photo courtesy of Eurofins Genomics)

Molecular tumor profiling, a highly technical laboratory genetic test can identify the specific genetic alterations implicated in cancer growth and thus identify treatments that target these specific mutations.

Although US Food and Drug Administration-approved targeted tumor sequencing tests have already been incorporated into practice and insurance coverage guidelines for adult cancers in the USA, pediatric cancer cases have only rarely been considered in trials informing such approvals.

A large team of pediatric oncologists led by those at the Boston Children’s Hospital (Boston, MA, USA) evaluated the clinical impact of molecular tumor profiling (MTP) with targeted sequencing panel tests, pediatric patients with extracranial solid tumors who were enrolled in a prospective observational cohort study at 12 institutions. The team performed targeted OncoPanel sequencing (Eurofins Genomics, Louisville, KY, USA). In the 345-patient analytical population, median age at diagnosis was 12 years (range 0–27.5); 298 patients (86%) had one or more alterations with potential for impact on care.

Genomic alterations with diagnostic, prognostic or therapeutic significance were present in 61%, 16% and 65% of patients, respectively. After return of the results, impact on care included 17 patients with a clarified diagnostic classification and 240 patients with an MTP result that could be used to select molecularly targeted therapy matched to identified alterations (MTT). Of the 29 patients who received MTT, 24% had an objective response or experienced durable clinical benefit; all but one of these patients received targeted therapy matched to a gene fusion. Of the diagnostic variants identified in 209 patients, 77% were gene fusions. MTP with targeted panel tests that includes fusion detection has a substantial clinical impact for young patients with solid tumors.

Katherine A. Janeway, MD, MMSc, the Physician Director of Clinical Genomics and senior author of the study, said, “By providing a more accurate diagnosis or identifying a targeted therapy, molecular tumor profiling significantly impacts the care we provide. The result is cancer treatment that is more effective and, in some cases, has fewer side effects.”

The authors inferred that their results support the development of management guidelines and insurance reimbursement determinations addressing molecular tumor profiling with targeted panel tests in advanced pediatric solid malignancies. Given diagnostic significance in 61% of patients and real-time clarification of diagnostic classification in 5% of patients, performing molecular tumor profiling early in the disease course should be considered. The study was published on June 23, 2022 in the journal Nature Medicine.

Related Links:
Boston Children’s Hospital
Eurofins Genomics