TriangleHEALTH PROFESSIONAL · SOURCE READING
Molecular features of neuroblastoma
Source: Childhood Cancer Genomics (PDQ®)–Health Professional Version, National Cancer Institute.
Source updated: April 30, 2025 · Captured 2026-09-09.
Selected source text with whitespace normalised. This Triangle page is not an NCI PDQ summary. Independent clinical review is pending.
Context: Neuroblastoma
Children with neuroblastoma can be divided into subsets with different predicted risks of relapse based on clinical factors and biological markers at the time of diagnosis.
Low-risk or intermediate-risk neuroblastoma patients. Patients classified as low risk or intermediate risk have a favorable prognosis, with survival rates exceeding 95%. Low-risk and intermediate-risk neuroblastoma usually occur in children younger than 18 months. These tumors commonly have gains of whole chromosomes and are hyperdiploid when examined by flow cytometry.[1,2]
High-risk neuroblastoma patients. The prognosis is more guarded for patients with high-risk neuroblastoma, with a long-term survival rate of less than 50%. High-risk neuroblastoma generally occurs in children older than 18 months and is often metastatic to bone and bone marrow. Segmental chromosome abnormalities (gains or losses) and/or MYCN gene amplification are usually detected in these tumors. They are near diploid or near tetraploid by flow cytometric measurement.[1-7] High-risk tumors generally harbor few exonic variants in cancer-related genes (see the Exonic Variants in Neuroblastoma section).
Biological subtypes of high-risk neuroblastoma can be defined by the mostly nonoverlapping genomic alterations listed below:
MYCN amplification.
Structural variants up- or down-stream of TERT, resulting in TERT expression.
ATRX alterations leading to activation of the alternative lengthening of telomere (ALT) pathway.
FOXR2 expression resulting in MYCN stabilization.
CDK4 and MDM2 co-amplification.
The subtypes listed have specific clinical characteristics, as discussed below. Variants in ALK, which occur across the different subtypes of high-risk neuroblastoma, are observed in approximately 15% of cases and are discussed separately.
Key genomic characteristics of high-risk neuroblastoma that are present in most cases of high-risk neuroblastoma are discussed below.
Continue within this section
Publication references
Read the original reference and check its publication notices.
Preserved source evidence · Independent clinical review pending · Not medical advice