Related Experiment Video

Updated: Apr 15, 2026

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models
12:01

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models

Published on: January 12, 2015

10.8K

FOXR2-activated CNS neuroblastoma: Characterized by variable structural disruption of the FOXR2 regulatory region,

Jianling Ji1,2, Venkata Yellapantula1,2, Dong Xu

  • 1Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.

Neuro-Oncology Pediatrics
|April 14, 2026
PubMed
Abstract

Insights

Genetic alterations disrupting the FOXR2 regulatory region and elevated FOXR2 expression characterize central nervous system neuroblastoma (CNS-NB FOXR2). Molecular testing is crucial for accurate diagnosis and improved patient outcomes.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • FOXR2, a forkhead box transcription factor, is implicated in central nervous system neuroblastoma (CNS-NB FOXR2).
  • The genetic mechanisms and clinical features of CNS-NB FOXR2 remain largely unelucidated.
  • Understanding these factors is critical for diagnosis and treatment.

Purpose of the Study:

  • To elucidate the genetic mechanisms underlying CNS-NB FOXR2.
  • To identify recurrent genetic alterations and their impact on FOXR2 expression.
  • To correlate molecular findings with clinical features and outcomes.

Main Methods:

  • Analysis of six CNS-NB FOXR2 cases identified via DNA methylation profiling.
  • Utilized optical genome mapping, chromosomal microarray, whole genome sequencing, and RNA sequencing (RNA-seq).
  • Integrated clinical data for comprehensive analysis.

Main Results:

  • Identified structural disruptions in the FOXR2 regulatory region, including insertions and complex rearrangements.
  • Observed recurrent copy number alterations: 1q gain (100%), 16q loss (80%), 11q loss (60%), and gains of chromosomes 8 and 17q (40%).
  • All female patients exhibited X chromosome loss, and elevated FOXR2 expression was noted in cases with available RNA-seq data.

Conclusions:

  • Structural disruption of the FOXR2 regulatory region and elevated FOXR2 expression are key features of CNS-NB FOXR2.
  • These rearrangements may evade detection by routine testing, emphasizing the need for molecular diagnostics.
  • Accurate initial diagnosis through molecular testing is essential for favorable clinical outcomes.
Keywords:
CNS neuroblastomaFOXR2copy number abnormalitymethylation profilingoptical genome mapping

More Related Videos

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

1.3K
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

2.3K

Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
5.0K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

2.9K
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
6.7K
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.4K