| Autor: |
Panferova, Agnesa V., Sinichenkova, Kseniya Yu., Jabal, Meriam Abu, Usman, Natalia Yu., Sharlai, Anastasya S., Roshchin, Vitalii Yu., Konovalov, Dmitry M., Druy, Alexander E. |
| Předmět: |
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| Zdroj: |
Cold Spring Harbor Molecular Case Studies; Aug2022, Vol. 8 Issue 5, p1-9, 9p |
| Abstrakt: |
The World Health Organization (WHO) Classification of Tumors of Soft Tissue and Bone subdivides rhabdomyosarcomas (RMSs) into alveolar, embryonal, pleomorphic, and spindle cell RMSs. Advances in molecular genetic diagnostics have made it possible to identify new RMS subgroups within traditional morphological entities. One of these subgroups comprises rare tumors characterized by epithelioid and spindle cell morphology, a highly aggressive clinical course with pronounced tendency to intraosseous growth, and the presence of pathognomonic recurring genetic aberrations—chimeric genes/transcripts EWSR1::TFCP2, FUS::TFCP2, or MEIS1::NCOA2. Starting from 2018, only 26 reported cases of RMS have been assigned to this subgroup. The rarity of such tumors hampers their correct diagnostics for both anatomic pathologists and molecular oncologists. Here,we describe a clinical case of intraosseous spindle cell RMSs expressing the EWSR1::TFCP2 fusion gene, encountered for the first time in our practice, in a 16-yr-old female patient presenting with mandibular lesion. The diagnostic process took considerable time and involved RNAsequencing—a high-throughput method of molecular genetic research. The tumor was extremely aggressive, showing resistance to polychemotherapy, radiation therapy, and crizotinib- targeted therapy, with the fatal outcome. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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