Browsing by Subject "Fusion gene"

Now showing 1 - 2 of 2
  • Thumbnail Image
    Publication
    Open Access
    Angiofibroma of soft tissue: Current status of pathology and genetics
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2022) Nakayama, Shizuhide; Nishio, Jun; Aoki, Mikiko; Koga, Kaori; Nabeshima, Kazuki; Yamamoto, Takuaki
    y. Angiofibroma of soft tissue (AFST) is a new soft tissue tumor entity described in the 2020 World Health Organization Classification of Soft Tissue and Bone Tumors. It most often arises in the lower extremities of middle-aged adults and pursues a benign clinical course with a low rate of non-destructive local recurrence. Histologically, the lesion consists of uniform bland spindle cells in a fibromyxoid stroma with a prominent vascular network. The vascular component forms a complex arrangement of small, thin-walled branching blood vessels. By immunohistochemistry, AFST is variably positive for epithelial membrane antigen, desmin, smooth muscle actin, CD34, CD68, CD163 and estrogen receptor. The exact etiology of AFST remains unknown, but it appears genetically distinct, with a balanced t(5;8)(p15;q13) translocation resulting in a fusion of aryl hydrocarbon receptor repressor (AHRR) and nuclear receptor coactivator 2 (NCOA2). Knowledge of this recently described entity is important because it can mimic a variety of intermediate and malignant soft tissue tumors, including solitary fibrous tumor, low-grade fibromyxoid sarcoma, myxoid liposarcoma and low-grade myxofibrosarcoma. We review AFST, with an emphasis on the diagnostic spectrum, recent molecular genetic features and the differential diagnosis.
  • Thumbnail Image
    Publication
    Open Access
    Morphological features and genetic background in ectomesenchymal chondromyxoid tumor: A systematic review
    (Universidad de Murcia, Departamento de Biologia Celular e Histiologia, 2025) Junia de Souza, Raquel Helena; Aragão Felix, Fernanda; Vasconcelos Filiú, Flávia Martins; Pereira de Jesus, Witalo; Paiva Fonseca, Felipe; Gomez, Ricardo Santiago; Guimarães Abreu, Lucas; Ferreira de Sousa, Sílvia
    Ectomesenchymal chondro-myxoid tumor (EMCMT) is a rare neoplasm that mainly affects the tongue and harbors recurrent, although not exclusive, gene fusions. Owing to its rarity, overlapping features with other tumors may lead to challenges in the microscopic diagnosis. We aimed to perform a systematic review focusing on the histomolecular findings of EMCMT of the oral and maxillofacial region and to evaluate the possible association between microscopic features with the genetic background. Methods. An electronic search was made on PubMed, Web of Science, Scopus, Ovid, and Embase. Clinicopathological, immunohistochemical, and molecular data were retrieved. Results. Overall, 114 cases from 53 articles on EMCMT were analyzed. Histologically, EMCMT was described as demarcated (84.2%), lobulated (66.7%), reticulated (51.8%), and arranged in sheets, cords, and strands (42.9%), with 73.7% of lesions with spindle-shaped cells. Myxoid stroma (88.6%), chondroid areas (60.5%), chondromyxoid stroma (57.0%), and fibrous septae (42.9%) were also tumor-outlined features. The most expressed markers were vimentin (100.0%), cyclin D1 (100.0%), GFAP (88.5%), NSE (87.5%), S100 (86.5%), CD56 (76.9%), and CD57 (76.5%). The RREB1-MRTFB fusion was detected in 91.0% of the cases investigated and EWSR1 rearrangements in 17.4%. The presence of the fusion RREB1::MRTFB or chromosome alterations in the EWSR1 gene were not highly specific to the morphological features of EMCMT. Conclusion. This study provides a comprehensive summary of the clinicopathological, immunohisto-chemical, and molecular characteristics of EMCMT, aiding in a more accurate microscopic diagnosis of this rare tumor.