Case report: EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomas

Author:

Panferova Agnesa V.ORCID,Sinichenkova Kseniya Yu.,Abu Jabal Meriam,Usman Natalia Yu.ORCID,Sharlai Anastasya S.,Roshchin Vitalii Yu.ORCID,Konovalov Dmitry M.,Druy Alexander E.

Abstract

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 RNA sequencing—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.

Publisher

Cold Spring Harbor Laboratory

Subject

General Medicine

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