# Identifying a novel PHOX2B gene variant in a neuroblastoma family: A case report

## TL;DR

A new PHOX2B gene variant was found in a family with neuroblastoma, offering insights for early diagnosis and genetic counseling.

## Contribution

A novel missense mutation in the PHOX2B gene is reported for the first time in a neuroblastoma family.

## Key findings

- A novel PHOX2B mutation c.422G > A (p.Arg141Gln) was identified in two affected siblings.
- The mutation was inherited from the mother and is potentially pathogenic for neuroblastoma.
- This finding expands the known mutation spectrum of the PHOX2B gene in neuroblastoma.

## Abstract

Neuroblastoma is a childhood cancer characterized by the formation of tumors derived from neuroblasts. Identifying the genetic mutations underlying neuroblastoma for genetic counseling and early diagnosis is essential. Thus, this study aimed to screen for pathogenic gene variants within a neuroblastoma family, aiming to contribute to genetic counseling practices. Clinical data was collected from a family affected by neuroblastoma, and peripheral blood DNA samples were obtained from all family members. A combination of whole-exome sequencing and Sanger sequencing was utilized to detect potential gene mutations. Proband 1 and her sister (Proband 2) were diagnosed with neuroblastoma, while their parents and siblings were unaffected. The analysis revealed a novel missense mutation, c.422G > A (p.Arg141Gln), in the PHOX2B gene, which was inherited from the mother. Notably, this mutation represents a previously unreported variant within the PHOX2B gene. Detecting the missense mutation c.422G > A (p.Arg141Gln) in the PHOX2B gene implies its potential pathogenic role within this neuroblastoma family. This finding widens the range of mutations observed in the PHOX2B gene and has important implications for early neuroblastoma diagnosis within this family.