scholarly journals Gene fusions in soft tissue tumors: Recurrent and overlapping pathogenetic themes

2015 ◽  
Vol 55 (4) ◽  
pp. 291-310 ◽  
Author(s):  
Fredrik Mertens ◽  
Cristina R. Antonescu ◽  
Felix Mitelman
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.


Science ◽  
2018 ◽  
Vol 361 (6405) ◽  
pp. eaam8419 ◽  
Author(s):  
Nathaniel D. Anderson ◽  
Richard de Borja ◽  
Matthew D. Young ◽  
Fabio Fuligni ◽  
Andrej Rosic ◽  
...  

Sarcomas are cancers of the bone and soft tissue often defined by gene fusions. Ewing sarcoma involves fusions between EWSR1, a gene encoding an RNA binding protein, and E26 transformation-specific (ETS) transcription factors. We explored how and when EWSR1-ETS fusions arise by studying the whole genomes of Ewing sarcomas. In 52 of 124 (42%) of tumors, the fusion gene arises by a sudden burst of complex, loop-like rearrangements, a process called chromoplexy, rather than by simple reciprocal translocations. These loops always contained the disease-defining fusion at the center, but they disrupted multiple additional genes. The loops occurred preferentially in early replicating and transcriptionally active genomic regions. Similar loops forming canonical fusions were found in three other sarcoma types. Chromoplexy-generated fusions appear to be associated with an aggressive form of Ewing sarcoma. These loops arise early, giving rise to both primary and relapse Ewing sarcoma tumors, which can continue to evolve in parallel.


Author(s):  
D. C. Swartzendruber ◽  
Norma L. Idoyaga-Vargas

The radionuclide gallium-67 (67Ga) localizes preferentially but not specifically in many human and experimental soft-tissue tumors. Because of this localization, 67Ga is used in clinical trials to detect humar. cancers by external scintiscanning methods. However, the fact that 67Ga does not localize specifically in tumors requires for its eventual clinical usefulness a fuller understanding of the mechanisms that control its deposition in both malignant and normal cells. We have previously reported that 67Ga localizes in lysosomal-like bodies, notably, although not exclusively, in macrophages of the spocytaneous AKR thymoma. Further studies on the uptake of 67Ga by macrophages are needed to determine whether there are factors related to malignancy that might alter the localization of 67Ga in these cells and thus provide clues to discovering the mechanism of 67Ga localization in tumor tissue.


2020 ◽  
Vol 24 (06) ◽  
pp. 667-675
Author(s):  
Violeta Vasilevska Nikodinovska ◽  
Slavcho Ivanoski ◽  
Milan Samardziski ◽  
Vesna Janevska

AbstractBone and soft tissue tumors are a largely heterogeneous group of tumors. Biopsy of musculoskeletal (MSK) tumors is sometimes a challenging procedure. Although the open biopsy is still considered the gold standard for the biopsy of MSK lesions, core needle biopsy can replace it in most cases, with similar accuracy and a low complication rate. The biopsy should be performed in a tertiary sarcoma center where the multidisciplinary team consists of at minimum a tumor surgeon, an MSK pathologist, and an MSK radiologist who can assess all steps of the procedure. Several factors can influence the success of the biopsy including the lesion characteristics, the equipment, and the method used for the procedure. This review highlights some of the important aspects regarding the biopsy of the MSK tumors, with special attention to imaging a guided core needle biopsy and highlighting some of the recent advancements and controversies in the field.


1994 ◽  
Vol 35 (4) ◽  
pp. 367-370 ◽  
Author(s):  
J. Gelineck ◽  
J. Keller ◽  
O. Myhre Jensen ◽  
O. Steen Nielsen ◽  
T. Christensen

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