Primary palatal sarcoma exhibiting EWSR1::RORß fusion: a first case report and literature review.

Dongwook Kim, Hyun Sil Kim, Haein Park, Daniel Wilfredo Banegas, Seung-Yong Han, In-Ho Cha, Hyang Joo Ryu

Journal: Oral surgery, oral medicine, oral pathology and oral radiology 2024;138(6):e113-e119

PMID: 39069454

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Abstract

In this report, a tumor exhibited EWSR1::RORß gene fusion, to our knowledge, is the first such reported case. The Ewing sarcoma breakpoint region 1 gene (EWSR1) is known to be associated with several soft tissue tumors although its specific role remains unclear. Its fusion with a member of the ETS family, including FLI1 and ERG, results in Ewing sarcoma, and its fusion with other genes unrelated to the ETS family, including NFATC2 and PATZ1, results in round cell sarcoma with EWSR1-non-ETS fusions, previously referred to as Ewing-like sarcoma. RORß encodes retinoic acid-related orphan receptor ß, a nuclear receptor (NR), and is involved in circadian rhythm modulation and cancer regulation. The specific role of RORß in tumorigenesis remains unclear; however, this case report suggests that it may form part of a new tumorigenic entity.

Address: Department of Oral and Maxillofacial Surgery, Yonsei University College of Dentistry, Seoul, Republic of Korea.; Department of Oral Pathology, Yonsei University College of Dentistry, Seoul, Republic of Korea.; Department of Oral Pathology, Yonsei University College of Dentistry, Seoul, Republic of Korea; Oral Cancer Research Institute, Yonsei University College of Dentistry, Seoul, Republic of Korea.; Department of Pathology, Yonsei University College of Medicine, Severance Hospital, Seoul, Republic of Korea.; Department of Oral and Maxillofacial Surgery, Yonsei University College of Dentistry, Seoul, Republic of Korea. Electronic address: [email protected].

DOI: 10.1016/j.oooo.2024.06.018

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MeSH Terms: Humans, Diagnosis, Differential, In Situ Hybridization, Fluorescence, Oncogene Proteins, Fusion, Palatal Neoplasms, RNA-Binding Protein EWS, Sarcoma