Rare Case of Esophageal Squamous Cell Carcinoma in an Adolescent with Multiple Congenital Anomalies and Homozygous USH2A Mutation
A BSTRACT A 16-year-old boy from consanguineous parents, carrying a homozygous USH2A mutation and multiple congenital anomalies, presented with distal esophageal squamous cell carcinoma – likely the first such case documented. This report underscores the value of genetic testing and multidisciplinary management, demonstrating feasible surgery-only treatment in a frail adolescent with an expanded USH2A phenotype.
Authors
- Gurushankari Balakrishnan
- Venkatraman Radhakrishnan
- Nandhini Vighneshwar
- Arvind Krishnamurthy
Institutions
- Cancer Institute (WIA) (IN)
Publication Details
- Journal
- Journal of Indian Association of Pediatric Surgeons
- Published
- 2026-07-01
- DOI
- https://doi.org/10.4103/jiaps.jiaps_404_25
- Primary Topic
- Esophageal Cancer Research and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00