Case highlights importance of early diagnosis and treatment for pediatric epithelioid sarcoma

In a rare case, a 13-year-old girl was diagnosed with epithelioid sarcoma (ES) in her left knee after a delayed diagnosis, ultimately leading to early metastasis and death. Epithelioid sarcoma is an uncommon form of mesenchymal malignancy, particularly rare in children, with only 7 reported cases of intra-articular ES in medical literature.

The girl was initially misdiagnosed with pigmented villonodular synovitis (PVNS), which was ruled out after a biopsy.

The lesion experienced rapid regrowth post-arthroscopy, raising concerns of malignancy. A comprehensive histochemistry examination was performed once more, revealing an INI-1 negative epithelioid sarcoma.

Despite aggressive treatment efforts, the girl died 7 months later due to early metastasis.

“This report highlights the importance of early and accurate diagnosis and underscores the necessity for effective treatments for epithelioid sarcoma,” the authors concluded. “Surgical resection or radical surgery is recommended, while novel treatment strategies targeting EZH2 show promise.”

Reference
Zhang R, Liu J, Liu L, et al. Delayed diagnosis of pediatric intra-articular epithelioid sarcoma: a case report and literature review. BMC Pediatr. 2023;23(1):488. doi: 10.1186/s12887-023-04305-6. PMID: 37752442.