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Soft Tissue Sarcomas—New Diagnostic and Therapeutic Perspectives Through Clinical Genomic Profiling

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Therapy".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 1360

Special Issue Editors


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Guest Editor
1. Klinikum Stuttgart—Olgahospital, Pediatrics 5 (Oncology, Hematology, Immunology), 70174 Stuttgart, Germany
2. Medical Faculty, University of Tübingen, 72076 Tübingen, Germany
Interests: rhabdomyosarcoma
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
1. Klinikum Stuttgart—Olgahospital, Pediatrics 5 (Oncology, Hematology, Immunology), 70174 Stuttgart, Germany
2. Medical Faculty, University of Tübingen, 72076 Tübingen, Germany
Interests: rhabdomyosarcoma
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Soft tissue sarcomas (STS) are a group of more than 70 different tumors that occur in children and adults. The diagnosis of STS is considered the most challenging field of diagnostic pathology. The introduction of molecular genetics to microscopic morphology and immunohistochemistry has been a major advance that has refined the diagnosis and classification of STS. However, therapeutic options have not changed substantially over the last few decades, and precision-based therapeutics have been introduced in only a few entities.

Transcriptional signature derived from expression of 67 genes, CINSARC outperformed the FNCLCC grading system but showed weak prognostic value in some groups of patients and is still not widely used as a basis of clinical decision. Comprehensive molecular profiling will hopefully open a new era in the diagnosis, classification, and therapy of STS.

It is also evident that a more accurate prediction of the risk of recurrence at the end of STS is urgently needed. Circulating tumor DNA (ctDNA) testing has begun to be used as a prognostic marker for therapy stratification and more precise patient enrollment in randomized trials in many malignancies and will hopefully soon be used in STS.

There is still a long way to go in order to characterize all STS molecularly and introduce new biomarkers into clinical routine. Many researchers all over the world are working on these topics, and we offer the new Special Issue as a way to publish and cumulate different results, facilitating exchange and comparisons.

Prof. Dr. Ewa Koscielniak
Prof. Dr. Monika Sparber-Sauer
Guest Editors

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • soft tissue sarcoma
  • molecular profiling
  • cancer genomics
  • personalized medicine

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Published Papers (1 paper)

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Research

14 pages, 1667 KB  
Article
Tumor Genomics, Metastatic Patterns, and Prognosis in Leiomyosarcoma: A Single-Center Retrospective Cohort Study
by Hayes Pearce, Yu-Cherng Chang, Sarah Wishnek Metalonis, Brandon Edward Rose, Emily E. Jonczak, Ty Subhawong, Gina D’Amato, Julie Grossman, Patricia Castillo, Marilyn Huang, Marco Magistri, Francis Hornicek, Andrew E. Rosenberg, Jonathan C. Trent and Francesco Alessandrino
Cancers 2025, 17(21), 3544; https://doi.org/10.3390/cancers17213544 - 1 Nov 2025
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Abstract
Background/Objectives: The prognostic associations of tumor genomics and metastatic patterns remain incompletely defined in leiomyosarcoma (LMS). We investigated the association between tumor mutations, sites of metastasis, and survival in patients with LMS. Methods: This single-center retrospective cohort study evaluated 110 patients with biopsy-proven [...] Read more.
Background/Objectives: The prognostic associations of tumor genomics and metastatic patterns remain incompletely defined in leiomyosarcoma (LMS). We investigated the association between tumor mutations, sites of metastasis, and survival in patients with LMS. Methods: This single-center retrospective cohort study evaluated 110 patients with biopsy-proven LMS who underwent genomic testing between January 2009 and May 2023. Associations between tumor mutations, metastatic sites, and uterine vs. non-uterine LMS were assessed using χ2 or Fisher’s exact test. Progression-free survival/recurrence-free survival (PFS/RFS) and overall survival (OS) were estimated with the Kaplan–Meier method and compared using the log-rank test, and subsequent Cox proportional hazards regression examined associations of OS and PFS/RFS with tumor mutations and metastatic sites. Results: The study included 110 subjects (F/M: 81/29; median age, 57 years; 25/110 with metastatic disease). Overall, the most common mutations were in TP53 (74/110, 67%) and RB1 (24/110, 22%), and the most common metastatic sites were the lungs (79/99, 80%) and liver (37/99, 37%). In terms of metastatic patterns, peritoneal (24/50, 48%), pelvic (23/50, 46%), and pleural (9/50, 18%) metastases were more common in the uLMS group (p = 0.001, 0.01, and 0.04, respectively), whereas liver (27/60, 45%) and retroperitoneal (15/60, 25%) metastases were more common in the nuLMS group (p = 0.03 and 0.04, respectively). ATRX mutations (17/110, 15%) and pleural metastases (11/99, 11%) were independently associated with lower OS. Predictive survival models were generated, demonstrating variable interdependent associations between genomic alterations, metastatic sites, and outcomes (OS and PFS/RFS). Post hoc analysis of an independent cohort (N = 2606) demonstrated that ATRX mutations were similarly associated with lower OS (28.95 vs. 33.86 months; p = 0.006). Conclusions: Our study identifies differences in metastatic patterns between uterine and non-uterine LMS and highlights the adverse prognostic association of ATRX mutations and pleural metastases in a leiomyosarcoma-specific cohort. Full article
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