A Clear Cell Sarcoma Case: A Diagnostic and Treatment Challenge, with a Promising Response to Trabectedin

• Published in: Case reports in oncology Vol. 16; no. 1; pp. 1542 - 1550
• Main Authors: Galera, Mar, Álvarez, Rosa, Arregui, Marta, Paniagua, Miguel, Álvarez, Ana, González Crisostomo, Raphael Angelo, Díazgranados, Adriana, Gutiérrez, Natalia, Calles, Antonio, Agra, Carolina
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland S. Karger AG 01.01.2023; Karger Publishers
• Subjects: Biopsy; Case Report; Case reports; Cell cycle; Chemotherapy; clear cell sarcoma; diagnosis; Ewings sarcoma; Medical diagnosis; Medical imaging; Melanoma; Metastasis; Mutation; Radiation therapy; radiotherapy; Skin cancer; Tomography; trabectedin; Transcription factors; treatment; Clear cell sarcoma; Case report; Treatment; Diagnosis; Trabectedin; Radiotherapy
• ISSN: 1662-6575; 1662-6575
• DOI: 10.1159/000534935

Abstract Introduction: Clear cell sarcoma (CCS) is a rare and aggressive soft tissue sarcoma. CCS is characterized by the translocation t(12;22) (q13;q12), involving the fusion of EWSR1 and ATF1 genes, and less frequently the fusion gene EWSR1-CREB1. Usually, CCSs are considered poorly responsive to conventional chemotherapy. However, trabectedin has shown activity against translocation-related sarcomas. Furthermore, preclinical results suggest that trabectedin is a promising antitumor agent for CCS, potentially inducing melanocytic differentiation. Case Presentation: We report the case of a challenging anatomopathological diagnosis in a patient with an aggressive metastatic CCS. Following the diagnosis of CCS, the patient experienced a clinical and radiological tumor response to trabectedin after four lines of treatment. Conclusion: This is a novel report of CCS treated with trabectedin that resulted in a partial response and suggests the need for further research on trabectedin as a therapeutic option for CCS.