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Molecular Researches in Soft Tissue Sarcomas

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: closed (30 December 2023) | Viewed by 1342

Special Issue Editors


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Guest Editor
The Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK
Interests: rare cancers genetics; stem cells microenvironment
Special Issues, Collections and Topics in MDPI journals

E-Mail Website
Guest Editor
Department of Oncology and Metabolism, The Medical School, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, UK
Interests: tumour microenvironment; vascular endothelial growth factor (VEGF)

Special Issue Information

Dear Colleagues,

Increasingly, we are looking to develop personalized treatment for cancer patients. Although this approach is becoming more prevalent and advancing therapy for many common cancers, for rare cancers such as sarcomas, this approach, with a few notable exceptions, is particularly problematic. Not only are sarcomas a very heterogeneous group, with over 100 subtypes, but they can also be highly variable in their genetic changes. Whilst some are translocation driven others have highly complex unstable karyotypes. Thus a personalized medicine approach for most sarcoma patients remains challenging and still seems to be far in the future.

In this issue, we look to see how our improved understanding of the genetic, transcriptomic and epigenetic changes of sarcomas can lead to the identification of potential therapeutic windows of opportunity, and enhance a personalized medicine approach. We seek submissions confirming or identifying novel subtype-specific abnormalities based on molecular investigations or profiling that may offer potential as biomarkers, or identification of targets for intervention. We are also interested in studies exploring the effect of targeted interventions, either for sarcomas as a group, or subtype-specific. Exploration of biological actionable traits, such as proliferation migration, invasion, metastasis and the targeting of stem cells with their associated molecular backgrounds in vitro and in vivo are also of interest.

Dr. Karen Sisley
Dr. William R. English
Guest Editors

Manuscript Submission Information

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Keywords

  • soft tissue sarcomas
  • genetic heterogeneity
  • stem cells
  • molecular interventions
  • molecular profilling
  • targeted therapy
  • personalized medicine
  • pharmacogenomics

 

Published Papers (1 paper)

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Research

16 pages, 3935 KiB  
Article
Identification of Novel/Rare EWSR1 Fusion Partners in Undifferentiated Mesenchymal Neoplasms
by Carmen Salguero-Aranda, Elena Di Blasi, Lourdes Galán, Laura Zaldumbide, Gema Civantos, David Marcilla, Enrique de Álava and Juan Díaz-Martín
Int. J. Mol. Sci. 2024, 25(3), 1735; https://doi.org/10.3390/ijms25031735 - 1 Feb 2024
Viewed by 980
Abstract
Recurrent gene fusions (GFs) in translocated sarcomas are recognized as major oncogenic drivers of the disease, as well as diagnostic markers whose identification is necessary for differential diagnosis. EWSR1 is a ‘promiscuous’ gene that can fuse with many different partner genes, defining different [...] Read more.
Recurrent gene fusions (GFs) in translocated sarcomas are recognized as major oncogenic drivers of the disease, as well as diagnostic markers whose identification is necessary for differential diagnosis. EWSR1 is a ‘promiscuous’ gene that can fuse with many different partner genes, defining different entities among a broad range of mesenchymal neoplasms. Molecular testing of EWSR1 translocation traditionally relies on FISH assays with break-apart probes, which are unable to identify the fusion partner. Therefore, other ancillary molecular diagnostic modalities are being increasingly adopted for accurate classification of these neoplasms. Herein, we report three cases with rare GFs involving EWSR1 in undifferentiated mesenchymal neoplasms with uncertain differential diagnoses, using targeted RNA-seq and confirming with RT-PCR and Sanger sequencing. Two GFs involved hormone nuclear receptors as 3′ partners, NR4A2 and RORB, which have not been previously reported. NR4A2 may functionally replace NR4A3, the usual 3′ partner in extraskeletal myxoid chondrosarcoma. The third GF, EWSR1::BEND2, has previously been reported in a subtype of astroblastoma and other rare entities, including a single case of a soft-tissue tumor that we discuss in this work. In conclusion, our findings indicate that the catalogue of mesenchymal neoplasm-bearing EWSR1 fusions continues to grow, underscoring the value of using molecular ancillary techniques with higher diagnostic abilities in the routine clinical setting. Full article
(This article belongs to the Special Issue Molecular Researches in Soft Tissue Sarcomas)
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