Rhabdomyosarcoma

P1/2, N=90, Recruiting, St. Jude Children's Research Hospital | Trial completion date: Dec 2025 --> Dec 2026

P=N/A, N=1500, Recruiting, St. Jude Children's Research Hospital | N=3000 --> 1500

The treatment of SS differs according to age. The use of perioperative chemotherapy followed by surgery and then radiotherapy is more common in pediatrics and may improve the prognosis and reduce the risk of recurrence and metastasis.

P=N/A, N=900, Active, not recruiting, Children's Oncology Group | Trial completion date: Dec 2025 --> Dec 2026

Given their indolent course after local excision alone, the noncommitted term EP300::VGLL3-fused rhabdomyoblastic tumor might be more appropriate for these tumors than the original RMS terminology to avoid overprognostication/overtreatment that the "rhabdomyosarcoma" label would imply. Reporting more cases is mandatory to elucidate the full anatomic and biological spectrum of this morphologically, anatomically, and genetically unique entity.

P1/2, N=64, Suspended, National Cancer Institute (NCI) | Trial completion date: Dec 2026 --> Dec 2027 | Recruiting --> Suspended | Trial primary completion date: Feb 2026 --> Dec 2026

The patient succumbed to the disease 4 months after surgery. RMS with FUS-TFCP2 fusion is rare, highly aggressive and associated with a poor prognosis.

After four cycles of chemotherapy, the patient achieved partial regression of metastatic lesions. The highly aggressive nature of PRMS emphasizes the importance of having individualized and multidisciplinary treatment approaches to such rare cases.

P=N/A, N=98, Completed, St. Jude Children's Research Hospital | Active, not recruiting --> Completed

Partial cystectomy was performed, but due to positive surgical margins and recurrent hematuria, targeted therapy with crizotinib was initiated based on anaplastic lymphoma kinase (ALK) positivity...This case highlights the importance of a multidisciplinary approach involving surgery, pathology, and oncology. Further pediatric-focused studies are warranted to refine treatment strategies and define long-term outcomes.

Key messages Round cell sarcomas share many morphological similarities, so the differential diagnosis can be broad; however, subtle differences between tumours can aid the final diagnosis. Nevertheless, most round cell sarcomas require molecular studies for accurate classification, and cytological specimens are usually high quality material for such ancillary techniques.

By sharing the diagnosis and treatment process of this patient and reviewing the relevant literature, we aim to help clinicians enhance their understanding of two rare diseases, namely pleomorphic RMS and sarcomatoid carcinoma of the liver.