scholarly journals An integrative histopathological and epigenetic characterization of primary intracranial mesenchymal tumors, FET:CREB‐fused broadening the spectrum of tumor entities in comparison with their soft tissue counterparts

2021 ◽  
Author(s):  
Arnault Tauziède‐Espariat ◽  
Philipp Sievers ◽  
Frédérique Larousserie ◽  
Joseph Benzakoun ◽  
Delphine Guillemot ◽  
...  
Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 512
Author(s):  
Celine Jacobs ◽  
Lore Lapeire

Soft tissue sarcomas are a group of rare mesenchymal tumors with more than 70 subtypes described. Treatment of these subtypes in an advanced setting is mainly according to a one-size-fits-all strategy indicating a high unmet need of new and more targeted therapeutic options in order to optimize survival. The introduction of advanced molecular techniques in cancer has led to better diagnostics and identification of new therapeutic targets, leading to more personalized treatment and improved prognosis for several cancer types. In sarcoma, a likewise evolution is seen, albeit at a slower pace. This manuscript describes how in the past years advanced molecular profiling in soft tissue sarcomas was able to identify specific and often pathognomonic aberrations, deferring standard sarcoma treatment in favor of more targeted treatment from an oncologist’s point of view.


2021 ◽  
Author(s):  
Simon Haefliger ◽  
Muriel Genevay ◽  
Michel Bihl ◽  
Romina Marone ◽  
Daniel Baumhoer ◽  
...  

AbstractMyoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these tumors is broad, and the diagnosis often requires immunostaining to confirm myoepithelial differentiation. Rarely, tumors show a morphology that is typical for myoepithelial neoplasms, while the immunophenotype fails to confirm myoepithelial differentiation. For such lesions, the term “myoepithelioma-like” tumor was introduced. Recently, two cases of myoepithelioma-like tumors of the hands and one case of the foot were described with previously never reported OGT-FOXO gene fusions. Here, we report a 50-year-old woman, with a myoepithelial-like tumor localized in the soft tissue of the forearm and carrying a OGT-FOXO1 fusion gene. Our findings extend the spectrum of mesenchymal tumors involving members of the FOXO family of transcription factors and point to the existence of a family of soft tissue tumors that carry the gene fusion of the OGT-FOXO family.


2020 ◽  
Vol 101 (4) ◽  
pp. 245-255 ◽  
Author(s):  
P.A. Gondim Teixeira ◽  
L. Simon ◽  
F. Sirveaux ◽  
B. Marie ◽  
M. Louis ◽  
...  

2008 ◽  
Vol 53 (22) ◽  
pp. 6569-6590 ◽  
Author(s):  
Hani Eskandari ◽  
Septimiu E Salcudean ◽  
Robert Rohling ◽  
Jacques Ohayon

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Olga D. Savvidou ◽  
George D. Chloros ◽  
Georgios D. Agrogiannis ◽  
Penelope Korkolopoulou ◽  
Georgios N. Panagopoulos ◽  
...  

Gastrointestinal stromal tumors (GISTs) are the most common malignant mesenchymal tumors of the gastrointestinal tract. The most common sites of metastasis are the liver and the peritoneum, whereas metastasis to soft tissue is rare. The authors present the case of a 78-year-old male with a soft tissue metastasis of a GIST and the current literature is reviewed.


2021 ◽  
Vol 22 (14) ◽  
pp. 7518
Author(s):  
Marcella Tazzari ◽  
Laura Bergamaschi ◽  
Alessandro De Vita ◽  
Paola Collini ◽  
Marta Barisella ◽  
...  

Soft tissue sarcomas (STSs) are a family of rare malignant tumors encompassing more than 80 histologies. Current therapies for metastatic STS, a condition that affects roughly half of patients, have limited efficacy, making innovative therapeutic strategies urgently needed. From a molecular point of view, STSs can be classified as translocation-related and those with a heavily rearranged genotype. Although only the latter display an increased mutational burden, molecular profiles suggestive of an “immune hot” tumor microenvironment are observed across STS histologies, and response to immunotherapy has been reported in both translocation-related and genetic complex STSs. These data reinforce the notion that immunity in STSs is multifaceted and influenced by both genetic and epigenetic determinants. Cumulative evidence indicates that a fine characterization of STSs at different levels is required to identify biomarkers predictive of immunotherapy response and to discover targetable pathways to switch on the immune sensitivity of “immune cold” tumors. In this review, we will summarize recent findings on the interplay between genetic landscape, molecular profiling and immunity in STSs. Immunological and molecular features will be discussed for their prognostic value in selected STS histologies. Finally, the local and systemic immunomodulatory effects of the targeted drugs imatinib and sunitinib will be discussed.


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