John M. Maris
约翰·马里斯
MD
Giulio J. D'Angio Endowed Chair in Neuroblastoma Research; Chief, Division of Oncology; Professor of Pediatrics神经母细胞瘤研究讲席教授，肿瘤学部主任
👥Biography 个人简介
John M. Maris, MD holds the Giulio J. D'Angio Endowed Chair in Neuroblastoma Research at Children's Hospital of Philadelphia (CHOP) and serves as Chief of the Division of Oncology, directing one of the world's most productive pediatric cancer research programs. He is globally recognized as a leading authority on the biology, genetics, and treatment of neuroblastoma—the most common extracranial solid tumor of childhood. His laboratory discovered germline and somatic ALK mutations as a major driver of hereditary and sporadic neuroblastoma, opening a new avenue for targeted therapy with ALK inhibitors. He has been a principal investigator on multiple Children's Oncology Group (COG) and NCI-funded studies and played a central role in large-scale genome-wide association and whole-genome sequencing efforts that have mapped the genomic landscape of this disease.
🧪Research Fields 研究领域
🎓Key Contributions 主要贡献
Discovery of ALK Mutations in Neuroblastoma
Led the landmark study identifying ALK as the major predisposition gene for familial neuroblastoma and a recurrent somatic driver mutation in sporadic high-risk disease, directly enabling clinical trials of crizotinib and lorlatinib in ALK-mutated neuroblastoma patients.
Neuroblastoma Genome-Wide Association Studies
Directed large-scale GWAS and whole-genome sequencing studies that identified inherited susceptibility loci including BARD1, LMO1, and DUSP12, illuminating the genetic architecture of neuroblastoma predisposition and revealing oncogenic mechanisms.
Pediatric Cancer Precision Oncology Infrastructure
Co-led the Pediatric Cancer Data Commons and the Children's Oncology Group's APEC1621 (MATCH) trial design for pediatric precision oncology, integrating tumor molecular profiling with targeted treatment assignment across pediatric cancer types.
MYCN-Driven Oncogenesis and Therapeutic Targeting
Advanced understanding of MYCN amplification as the defining molecular event in high-risk neuroblastoma and contributed to preclinical and clinical studies of BET bromodomain inhibitors and Aurora A kinase inhibitors that disrupt MYCN protein stability.
Representative Works 代表性著作
Hereditary neuroblastoma: the ALK story
Nature Genetics (2008)
Identified germline activating mutations in ALK as the primary cause of hereditary neuroblastoma and demonstrated somatic ALK mutations in 6-8% of sporadic cases.
Genome-wide association study identifies a susceptibility locus for neuroblastoma at 6p22
New England Journal of Medicine (2008)
First GWAS in neuroblastoma identifying common inherited susceptibility variants at 6p22 (BARD1 locus), establishing a polygenic model of disease risk.
Neuroblastoma
New England Journal of Medicine (2010)
Comprehensive seminal review synthesizing the biology, risk stratification, and treatment of neuroblastoma, widely used as the field-defining reference.
The genomic landscape of childhood neuroblastoma: integrated genomic analysis
Nature Genetics (2013)
Systematic sequencing of 240 neuroblastomas revealing the low mutation burden and the key roles of ALK, ATRX, and chromothripsis in high-risk disease.
🏆Awards & Recognition 奖项与荣誉
📄Data Sources 数据来源
Last updated: 2026-04-06 | All information from publicly available academic sources
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