“This study is important because of the large numbers of genetic samples and the significance of the results,” stated Antoni Ribas, MD, PhD, President of the American Association for Cancer Research and Director of Tumor Immunology at UCLA’s Jonsson Comprehensive Cancer Center.
“The study included 556 patients with neuroblastoma, a common childhood malignancy. We have known for years that some cases were inherited, but the majority were not. The estimate was less than 10%. By studying these 556 patients with samples from both parents, investigators have been able to document that the heritability is probably much higher than we thought,” he explained.
“A total of 16% had germline variants identified in either parent, suggesting that neuroblastoma is inherited. Patients with these variants had worse outcomes,” Dr. Ribas stated.
“This study opens the door to genetic counseling for these families and the possibility of preventing some of these cases,” Dr. Ribas proposed. “We look forward to future studies analyzing these genes to pave the way for potential treatments for neuroblastoma.”
DISCLOSURE: Dr. Ribas has served in a leadership role for Arcus Biosciences, Lutris, and PACT Pharma; holds stock or other ownership interests in 4c Biomed, Advaxis, Arcus Biosciences, Compugen, CytomX Therapeutics, Five Prime Therapeutics, Highlight, ImaginAb, Isoplexis, Kite/Gilead, Lutris Pharma, MapKure, Merus, PACT Pharma, RAPT Therapeutics, Rgenix, and Tango Therapeutics; has received honoraria from Amgen, AstraZeneca, Chugai/Roche, Genentech/Roche, Merck Sharp & Dohme, Novartis, Sanofi, and Vedanta Biosciences; has served as a consultant or advisor to Amgen, Chugai Pharma, Merck, Novartis, and Sanofi; and has received institutional research funding from Agilent and Bristol Myers Squibb.
Researchers have made progress in unravelling the genetic underpinnings of pediatric neuroblastoma. Two main inherited pathogenic genetic variants have been identified and appear to be associated with worse outcomes: the ALK gene and loss of function in PHOX2B. The research, conducted with the...