A Rare Case with a Tragic Outcome
Epithelioid sarcoma is a rare form of mesenchymal malignancy that is even rarer in children. This case report presents a 13-year-old girl who was initially misdiagnosed, leading to tragic consequences.
The Source Article Details
Delayed diagnosis of pediatric intra-articular epithelioid sarcoma: a case report and literature review by Ranran Zhang et al. in 2023.
The Source Article's 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.
Citing the Source Article (APA)
Zhang, R., Liu, J., Liu, L., Lin, Y., Zhang, Q. (2023). Delayed diagnosis of pediatric intra-articular epithelioid sarcoma: a case report and literature review. BMC Pediatrics, 23(1), 488-488. 10.1186/s12887-023-04305-6
The Perils of Misdiagnosis
The young patient was initially diagnosed with Pigmented Villonodular Synovitis (PVNS), a benign condition. However, the lesion regrew rapidly after arthroscopy, raising suspicions of malignancy.
A comprehensive histochemistry examination was conducted, which led to the diagnosis of INI-1 negative epithelioid sarcoma. Unfortunately, the girl passed away seven months later due to early metastasis of the tumor.
Implications for the Medical Profession
- Importance of early and accurate diagnosis
- Need for effective treatments targeting epithelioid sarcoma
FAQs
What is INI-1 negative epithelioid sarcoma?
It is a rare form of epithelioid sarcoma characterized by the absence of the INI-1 protein.
What are the treatment options?
Surgical resection or radical surgery is recommended, while novel treatment strategies targeting EZH2 show promise.
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