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Updated: May 1, 2026
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Detection of Tumor Suppressor Genes Rare Variants: Findings From Neuroblastoma Using Next-Generation Sequencing
Aylin Erol1, Deniz Kızmazoğlu1, Tekincan Çağrı Aktaş1
1Institute of Oncology, Dokuz Eylul University, Izmir, Turkey.
Background/Objectives:
Neuroblastomas (NB) influenced by genetic alterations, which plays significant role in disease progression. Tumor suppressor genes (TSGs) are crucial in regulating cell growth, suppressing replication, and inducing apoptosis to prevent cancer formation. However, mutations in TSGs can lead to loss of normal activity, contributing to cancer development. This study aimed to identify TSG variants in NB patients and assess their clinical significance.
Methods:
One hundred two NB patients diagnosed and monitored according to the International Neuroblastoma Risk Group Staging System (INRGSS) protocol were included in this study. DNA was extracted from paraffin-embedded tissue samples, and Next-Generation Sequencing (NGS) was conducted using the Pillar ONCO/Reveal Multi-Cancer v4 panel.
Results:
The most frequently recurring TSG variant detected was RB1, p.P793S (n = 21; 25%) followed by ATM, p.D1853N (n = 20, 19.6%).Stop-gain variants were identified in TP53 (p.R196*), FBXW7 (p.R367*), and PTEN (p.G129*).
Conclusions:
Our findings underscore the significance of specific TSG variants in NB, particularly in relation to disease progression and potential prognostic markers. Further research is needed to comprehensively assess the role of TSGs in NB, with an emphasis on germline variants and protein expression in larger patient cohorts.
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