Detection of Tumor Suppressor Genes Rare Variants: Findings From Neuroblastoma Using Next-Generation Sequencing

Area of Science:

• Oncology
• Genetics
• Molecular Biology

Background:

• Neuroblastoma (NB) progression is influenced by genetic alterations.
• Tumor suppressor genes (TSGs) are critical for regulating cell growth and preventing cancer.
• Mutations in TSGs can disrupt normal function, contributing to cancer development.

Purpose of the Study:

• Identify tumor suppressor gene (TSG) variants in neuroblastoma (NB) patients.
• Assess the clinical significance of these TSG variants in NB.

Main Methods:

• Analyzed DNA from 102 NB patients using Next-Generation Sequencing (NGS).
• Utilized the Pillar ONCO/Reveal Multi-Cancer v4 panel for variant detection.
• Patients were staged according to the International Neuroblastoma Risk Group Staging System (INRGSS).

Main Results:

• RB1, p.P793S was the most frequent TSG variant (25%).
• ATM, p.D1853N was the second most common variant (19.6%).
• Stop-gain variants were found in TP53, FBXW7, and PTEN.

Conclusions:

• Specific TSG variants are significant in NB, potentially serving as prognostic markers.
• Further research on germline variants and protein expression in larger cohorts is warranted.
• Understanding TSG roles is crucial for NB management.