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Updated: Jan 5, 2026
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
Unfavorable Outcome of Neuroblastoma in Patients With 2p Gain
Katarzyna Szewczyk1, Aleksandra Wieczorek2,3, Wojciech Młynarski4
1Department of Medical Genetics, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Abstract:
Background: Amplification of the MYCN oncogene is the most unfavorable genetic factor in neuroblastoma patients. However, knowledge about the clinical impact of low-level multiplication of MYCN is still insufficient. Therefore, we aimed to investigate the disease course in patients with different copy number status of MYCN. Materials and Methods: We examined 105 children diagnosed with neuroblastoma from 2010 to 2018 in five pediatric oncology centers in Poland. We determined the MYCN status at diagnosis by the interphase FISH examination and assessed the clinical outcome in patients. Results: A total of 35% of tumors presented with chromosome 2 numerical changes, 20% had MYCN amplification and 16% revealed 2p gain. Unexpectedly, we observed very low overall survival and event free survival (EFS) rates in neuroblastomas with 2p gain, which were comparable with patients with MYCN amplification. Conclusions: The 2p gain alteration should be reported as a strong unfavorable prognostic marker in neuroblastoma patients.
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