Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Schuss, J.
Management of rare molecularly defined soft tissue sarcomas in children and adolescents: A literature review and retrospective case study
Humanmedizin; [ Diplomarbeit ] Medizinische Universität Graz; 2024. pp. 72
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- Autor*innen der Med Uni Graz:
- Betreuer*innen:
- Benesch Martin
- Perwein Thomas
- Altmetrics:
- Abstract:
- Background: Molecular diagnostics has not only changed the way soft tissue sarcomas are classified by defining novel entities, but has also enabled the use of targeted therapy. Due to the rarity of these tumors, guidelines on the optimal clinical management of these molecularly defined entities are lacking. Methods: The present work aims at providing an overview of diagnostic and therapeutic strategies based on a PubMed research and case reports of 7 patients with rare molecularly defined soft tissue sarcomas treated at the Division of Pediatric Hematology and Oncology, Medical University of Graz (2010-2023). Results: 53% (49/93) of patients with IFS harbored gene fusions other than the canonical ETV6-NTRK3 (NTRK1-3, BRAF, MET, ALK, RET). Surgical resection only (complete or incomplete) was curative in 79% (27/34) of patients with localized IFS, while relapse occurred in 47% (7/15) of patients with incomplete resection. Of 30 patients with IFS receiving targeted therapy, 15 (50%) achieved CR, none of them died. Of 50 patients with DSRCT, 64% (30/47 with available follow-up) died despite aggressive multimodal treatment (median OS: 1.5 years). Similarly, prognosis is unfavorable in patients with CRS (67% [16/24] died) and CCSS (60% [12/20] died). Of 33 patients with BRS who commonly received multimodal treatment, 81% (25/31) were alive at last follow-up, including 61% in CR. In 24 patients with NTRK-rearranged spindle cell neoplasms, 100% (24/24) were alive at last follow-up (median: 2 years), mainly following primary or secondary R0-resection. Despite 88% of patients with AFH receiving surgery only (n=22), disease was reported extensive and letal in some patients. Conclusion: In NTRK-rearranged spindle cell neoplasms and AFH, treatment is based on surgery only. In BRS, multimodal treatment concepts are advised. CRS, DSRCT and CCSS show an unfavorable prognosis. In tumors showing fusions related to the NTRK group of genes (including IFS), targeted therapy presents a safe and promising treatment option.