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Study of chromatin remodeling genes implicates SMARCA4 as a putative player in oncogenesis in neuroblastoma

Angela Bellini1,2,3, Nadia Bessoltane-Bentahar1,2,3, Jaydutt Bhalshankar1,2,3

  • 1Equipe SiRIC RTOP Recherche Translationelle en Oncologie Pédiatrique, Institut Curie, Paris, France.

International Journal of Cancer
|April 25, 2019
PubMed

Insights

Genetic variations in chromatin remodeling and epigenetic modifier genes occur in 20% of neuroblastoma cases, impacting patient survival. SMARCA4 and ATRX genes showed increased alterations in neuroblastoma compared to controls, suggesting their role in oncogenesis.

Area of Science:

  • Oncology
  • Genetics
  • Epigenetics

Background:

  • Genetic alterations in chromatin remodeling genes (CRGs) and epigenetic modifier genes (EMGs) are implicated in neuroblastoma (NB).
  • Understanding the frequency and clinical significance of these variations is crucial for NB research.

Purpose of the Study:

  • To determine the frequency and clinical impact of genetic variations in CRGs and EMGs in neuroblastoma.
  • To compare the prevalence of these variations in NB patients versus the general population using gnomAD data.

Main Methods:

  • Whole exome/genome sequencing and targeted sequencing of 33 CRGs/EMGs in 283 NB tumor samples.
  • Analysis of somatic and germline variations, including single nucleotide variants (SNVs), small insertions/deletions (InDels), and copy number alterations (CNAs).
  • Comparison of gene variation frequencies between NB cases and the Genome Aggregation Database (gnomAD) cohort.

Main Results:

  • Genetic variations in CRGs/EMGs were identified in 20% (56/283) of NB cases.
  • ATRX (5%), SMARCA4 (2.5%), MLL3 (2.5%), and ARID1B (2.5%) were the most frequently altered genes.
  • Variations in SMARCA4 and ATRX were significantly more frequent in NB compared to gnomAD.
  • Cases with CRG/EMG variations exhibited poorer overall survival.

Conclusions:

  • Genetic variations in CRGs/EMGs are prevalent in neuroblastoma and associated with reduced survival.
  • SMARCA4 and ATRX alterations suggest their involvement in neuroblastoma development.
  • Further investigation into the functional impact of these genetic variations is warranted.
Keywords:
SMARCA4SWI/SNFchromatin remodeling complexepigenetic modifierneuroblastoma

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