Key result
Ewing sarcoma of the head and neck, which mostly involves the mandible in younger patients, is characterized by EWSR1 and FLI1 gene fusions alongside emerging genetic variants.
Why the study?
Ewing sarcoma of the head and neck is uncommon in the Indian subcontinent and poses challenges in diagnosis.
This review summarizes the clinical features, gene fusions, and molecular pathogenesis of Ewing sarcoma of the head and neck to aid in diagnosis and therapeutic approaches.
May aid diagnosis of rare head-neck Ewing sarcoma; leaves open prospective validation in Indian populations.
Ewing sarcoma (ES) of head & neck is uncommon in Indian subcontinent and poses challenge in diagnosis. This review is intended to comprehend clinical features, cell of origin, gene fusions, molecular pathogenesis and immunohistochemical markers (IHC) of ES to succour in contemplating its diagnosis. A literature search of the electronic databases of PubMed, Scopus and Web of Science (1865–2020) was conducted and handsearching of reference articles was done. Search strategy used MESH keywords like ‘Ewing's sarcoma’, ‘PNET’ and ‘round cell tumor’, ‘gene fusions of ES’, etc. ESs are common in younger age group and it involves mostly mandible among head & neck region. Clinical and radiological features are variable. ES has hallmark chromosomal translocation of EWSR1 and FLI1 genes. But in recent times many other genetic fusions have been identified with similar clinical phenotype. It has few cells of origin but not easy to find the archetype. The author hopes that this review has abridged all the facts related to puzzling Ewing sarcoma by analysing newer gene fusions of all the head & neck ES cases reported in India and correlate them with clinical phenotype, enabling the best therapeutic approach.
No takes yet. Share an insight, caveat, or question.
Mishra et al. (2021) conducted a review in Ewing sarcoma of head & neck. Ewing sarcoma of the head and neck, which mostly involves the mandible in younger patients, is characterized by EWSR1 and FLI1 gene fusions alongside emerging genetic variants.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: