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Updated: Oct 5, 2025
09:58
Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
Published on: June 27, 2020
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Mutational landscape of primary and recurrent Ewing sarcoma
Paulina Jagodzińska-Mucha1, Paweł Sobczuk1,2, Michał Mikuła3
1Department of Soft Tissue/Bone Sarcoma and Melanoma, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.
Contemporary Oncology (Poznan, Poland)
|January 26, 2022
Summary
Ewing sarcoma (ES) has numerous genetic mutations beyond the EWSR1 fusion, including PIK3R1 and POLE, offering potential targets for precision medicine. Genomic heterogeneity in ES may explain varied patient outcomes.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Ewing sarcoma (ES) is an aggressive bone and soft tissue cancer.
- Metastasis occurs in over a third of patients, leading to poor prognosis.
- Understanding ES genetics can advance targeted therapy development.
Purpose of the Study:
- To analyze the mutational landscape of ES.
- To compare genetic profiles in pretreatment, post-chemotherapy, and metastatic samples.
- To investigate differences in adult and pediatric patient subgroups.
Main Methods:
- Targeted next-generation sequencing (NGS) of 39 ES tumor samples from 22 patients.
- Utilized the Oncomine Comprehensive Assay v3 gene panel.
- Performed functional analyses across patient subgroups.
Main Results:
- Low tumor mutation burden (<10 mut/Mb) observed in all samples.
- PIK3R1 (59%) and POLE (50%) were the most frequently mutated genes.
- PIK3R1 mutations were more common in adults; DNA repair and cell cycle pathway mutations were more frequent in children.
Conclusions:
- ES exhibits numerous point mutations beyond EWSR1 fusion, presenting potential precision medicine targets.
- Significant genomic heterogeneity exists within ES.
- Genetic differences may account for varied patient outcomes.
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