AUTHOR=Winnicka Dorota , Skowera Paulina , Stelmach Magdalena , Styka Borys , Lejman Monika 

TITLE=Application of the FISH method and high-density SNP arrays to assess genetic changes in neuroblastoma—research by one institute

JOURNAL=Acta Biochimica Polonica

VOLUME=Volume 71 - 2024

YEAR=2024

URL=https://www.frontierspartnerships.org/journals/acta-biochimica-polonica/articles/10.3389/abp.2024.12821

DOI=10.3389/abp.2024.12821

ISSN=1734-154X

ABSTRACT=Neuroblastoma is the most common extracranial solid tumour in children. Amplification of the MYCN gene was observed in approximately 20-30% of tumours. It is strongly correlated with ad-vanced stage of disease, rapid tumour progression, resistant to chemotherapy and poor outcome independent of patient age and stage of advanced disease. Amplification of the MYCN identify high-risk patients. To assess neuroblastoma tumours with MYCN amplification we used paraffin-embedded tissue sections in 57 patients and intraoperative tumour imprints in 10 patients by fluorescent in situ hybridization (FISH). Positive results of MYCN amplification were observed in twelve patients' paraffin-embedded tissue sections and in three patients' intraoperative tumour imprints which represents an 22,4% of all tested patients in the analysis. Fluorescent in situ hybridization is a high-sensitive, useful technique for detecting MYCN amplification on paraffin-embedded tissue section of neuroblastoma tumours and intraoperative tu-mour imprints thus facilitating therapeutic decisions based on the presence or absence of this important biologic marker. Presence of structural changes, regardless of the MYCN gene amplifi-cation status, influences of the clinical behavior of neuroblastoma. High-Density SNP Arrays have emerged as perfect tools for detecting these changes due to their exceptional accuracy, sensitivity and ability to analyze copy numbers and allele information. Consequently, they prove highly valuable in the genomic diagnosis of immature neuroectodermal tumours.