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Sarcomas: From Molecular Signatures to Morphologic Patterns

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: 20 May 2026 | Viewed by 723

Special Issue Editor


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Guest Editor
1. Instituto Valenciano de Oncología, Valencia, Spain
2. Pathology Department, Hospital Quironsalud, Valencia, Spain
Interests: bone and soft tissue tumor; solitary fibrous tumor; ewing sarcoma; round cell sarcomas; gastrointestinal pathology
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Special Issue Information

Dear Colleagues,

Although certain genetic alterations are associated with specific types of sarcoma, many genetic alteration genes, including fusion genes, can be found in entirely different benign or malignant entities. Therefore, molecular alterations should not be evaluated in isolation but should be integrated with all clinical and morphological findings. This is especially important when entities are defined solely by the presence of a specific molecular alteration. An approach based on molecular alterations alone may be misleading unless large cohorts with that particular alteration have already been analyzed to better predict the behavior of the associated sarcoma.

The aim of this Special Issue is to highlight emerging insights into the relationship between genetic alterations and specific morphologic phenotypes in sarcomas. Interestingly, some genetic abnormalities consistently produce distinct morphologic patterns that can serve as structural signatures, indicating the presence of particular molecular changes. The key is to make optimal use of both traditional morphologic evaluation and modern molecular tools to understand how genetic alterations influence morphology, as well as how histopathological features can, in turn, help to predict underlying genetic defects. Such integration would enhance diagnostic accuracy and support more effective disease management and follow up.

Dr. Isidro Machado
Guest Editor

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Keywords

  • sarcomas
  • histopathology
  • molecular pathology
  • FISH
  • gene fusion in sarcomas

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Published Papers (1 paper)

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Research

15 pages, 2257 KB  
Article
Comparative Characterization of Tumor Microenvironments in Monophasic and Biphasic Synovial Sarcomas
by Anna Kosyreva, Enar Jumaniyazova, Alexandra Sentyabreva, Ekaterina Miroshnichenko, Dzhuliia Dzhalilova, Timur Fetisov, Anastasia Tararykova, Anastasiya Lokhonina and Timur Fatkhudinov
Int. J. Mol. Sci. 2025, 26(20), 10119; https://doi.org/10.3390/ijms262010119 - 17 Oct 2025
Viewed by 540
Abstract
The impact of histological subtype on immunogenic properties of the tumor microenvironment in synovial sarcomas (SSs) remains understudied. This study aimed to conduct a comparative assessment of tumor microenvironments in monophasic and biphasic SSs. During the study, biomaterial from nine patients with SS [...] Read more.
The impact of histological subtype on immunogenic properties of the tumor microenvironment in synovial sarcomas (SSs) remains understudied. This study aimed to conduct a comparative assessment of tumor microenvironments in monophasic and biphasic SSs. During the study, biomaterial from nine patients with SS was analyzed using IHC analysis, flow cytometry, and real-time PCR. All tumors were infiltrated with CD45+ leukocytes, including the diffusely scattered CD68+ macrophages. FAP+ cells were identified in 7/9 observations, including both monophasic and biphasic tumors. CD4+ T cells and CD20+ B cells were identified by IHC in biphasic SS. The flow cytometry assay revealed significantly higher counts of CD4+ and CD8+ lymphocytes in biphasic SS. IHC revealed E-cadherin expression specifically in the epithelial component of biphasic SS. Vimentin expression in the mesenchymal component of biphasic SS was stronger than in monophasic tumors. The reverse transcription real-time PCR assay revealed higher expression of tumor markers CDKN2A, EGFR, and PDGFRL in monophasic SS. Expression levels of M2 macrophage marker ARG1 and levels of M1 macrophage marker NOS2 in monophasic SS were higher than in biphasic tumors. Biphasic and monophasic SSs revealed distinct molecular patterns and differential degrees of T lymphocyte and M2 macrophage infiltration. Biphasic SSs are characterized by the presence of lymphocytes in the tumor, while monophasic SSs show more pronounced infiltration with M2 macrophages. Monophasic tumors are characterized by higher expression of cancer-related genes CDKN2A, EGFR, and PDGFRL, which can be considered as potential targets for treatment. Our study is limited to a small sample of patients. This is due to the rarity of synovial sarcoma, as well as the fact that we recruited patients who had not received radiation or chemotherapy before taking the biomaterial. It was these criteria that made it possible to objectively assess the state of the tumor microenvironment. Full article
(This article belongs to the Special Issue Sarcomas: From Molecular Signatures to Morphologic Patterns)
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