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Persistence Pays Off for Neuroblastoma Researcher, Fifteen Years Later

Learn how John Maris, MD, got to the heart of the (genetic) matter in his research.

Published February 27, 2016

Persistence Pays Off for Neuroblastoma Researcher, Fifteen Years Later

Persistence paid off for John Maris, MD-fifteen years after he began searching for genetic abnormalities linked to neuroblastoma during his post-doctoral fellowship, his research team discovered that mutations of the anaplastic lymphoma kinase (ALK) gene are associated with many neuroblastomas. Today, Maris's work at The Children's Hospital of Philadelphia (CHOP) continues to strive to translate basic and clinical research into improved therapies for patients.

Currently, neuroblastoma is the most common extracranial solid tumor in childhood, with an incidence rate of about 10.54 cases per 1 million per year in children younger than 15 years. Although overall incidence of pediatric cancer has declined since 1975, survival rates for children with neuroblastoma vary significantly based on age of diagnosis and risk classification. The five-year survival rates for patients range from 90% for those younger than 1 year to 66% for those age 10- 14 years; children in the low-risk group have a five-year survival rate at more than 95%, but the survival rates for children in the high-risk group are between 40- 50%.

These statistics, plus a research opportunity prior to attending medical school, played a significant role in shaping Maris' career path in medicine. Working in the laboratories of noted pediatric oncologist Audrey Evans and biophysicist Britton Chance prior to attending the University of Pennsylvania School of Medicine, influenced his decision to study neuroblastoma. "I was introduced to the disease, including patients and families, while a technician before medical school," Maris told us. "I had great mentors and have stuck ever since to trying to solve the many enigmas associated with the disease."

During his postdoctoral fellowship, Maris's research was focused on determining genetic mutations associated with familial neuroblastoma—he didn't discover it then, but fifteen years later his team found that the primary cause of familial neuroblastoma is a germline mutation in the ALK gene. Yael Mossé, MD was the post-doctoral trainee who made the actual discovery, and now she is an internationally recognized expert in translating ALK inhibition strategies to patients.

For Maris, improving survival rates of neuroblastoma is promising when a multifaceted approach is applied. "Bridging the fields of genomics and immunotherapy together is our greatest hope," he noted. "We will be increasingly individualizing therapy based on the unique features of the patients and their heritable genome and the evolving cancer genome/proteome. The road to translating research findings into novel therapies is long, but we're working on it."

Dr. Maris will be presenting at the upcoming event "Sohn Conference: Pediatric Cancer in a Post-genomic World." The event will also be available as a Webinar.