ArticleFrontiers in medicine2025
Primary extraskeletal osteosarcoma of the esophagus with PPM1D-BCAS3 fusion: a case report and literature review.
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Extraskeletal osteosarcoma (ESOS), a malignant soft tissue neoplasm characterized by the presence of osteoid or cartilage matrix, arises without bone involvement. ESOS within the esophagus is particularly rare. This study reported a case of esophageal ESOS with PPM1D-BCAS3 fusion, offering an analysis of its clinicopathological features and a comprehensive literature review aimed at advancing the diagnostic understanding of clinical pathologists. Case demonstration: A 76-year-old male presented with a 2-month history of subxiphoid pain and dysphagia. Chest computed tomography CT revealed irregular mid-esophageal wall thickening and luminal stenosis, raising suspicion for mid-esophageal carcinoma. Painless endoscopic ultrasonography detected a hypoechoic intraluminal esophageal mass. Endoscopic submucosal dissection (ESD) and histopathological analysis confirmed primary ESOS of the mid-esophagus. No adjuvant therapy was administered postoperatively. However, the patient experienced a recurrence with multiple metastases 9-months later. Conclusion: The diagnosis of esophageal ESOS, a condition of exceptional rarity, necessitates an integrative evaluation that encompasses clinical history, imaging modalities, and histopathological analysis, with a critical distinction from metastatic osteosarcoma and carcinosarcoma. This study presented the first case of esophageal ESOS with PPM1D-BCAS3 fusion treated via ESD, providing a significant point of reference for clinicians and pathologists. The management of ESOS demands vigilant monitoring and precise follow-up care.
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