Delayed diagnosis of pediatric intra-articular epithelioid sarcoma: a case report and literature review

Autor: Ranran Zhang, Jia Liu, Lin Liu, Yi Lin, Qiuye Zhang
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: BMC Pediatrics, Vol 23, Iss 1, Pp 1-8 (2023)
Druh dokumentu: article
ISSN: 1471-2431
DOI: 10.1186/s12887-023-04305-6
Popis: Abstract Background Epithelioid sarcoma (ES) is a rare form of mesenchymal malignancy that rarely occurs in children. Only seven cases of intra-articular epithelioid sarcoma have been reported in the medical literature. Case presentation In this report, we presented the case of a 13-year-old girl with a delayed diagnosis of ES in the left knee. Her initial diagnosis was mistaken for Pigmented Villonodular Synovitis (PVNS) but ruled out later by the first biopsy. However, the lesion rapidly regrew again after arthroscopy, raising suspicions of malignancy. A comprehensive histochemistry examination was conducted again, leading to the diagnosis of INI-1 negative epithelioid sarcoma. Unfortunately, the girl passed away seven months later due to early metastasis of the tumor. Conclusion Careful consideration should be given to the differential diagnosis of pediatric patients presenting with monoarthritis. This report highlights the importance of early and accurate diagnosis and underscores the necessity for effective treatments for epithelioid sarcoma. Surgical resection or radical surgery is recommended, while novel treatment strategies targeting EZH2 show promise.
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