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

IF 1.9 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2024-12-01 Epub Date: 2024-07-03 DOI:10.1016/j.oooo.2024.06.018

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

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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.

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显示 EWSR1::RORß 融合的原发性腭肉瘤：首例病例报告和文献综述

据我们所知，本报告中的肿瘤表现出 EWSR1::RORß 基因融合，这是首次报道此类病例。已知尤文肉瘤断点区 1 基因（EWSR1）与多种软组织肿瘤有关，但其具体作用仍不清楚。它与包括 FLI1 和 ERG 在内的 ETS 家族成员融合会导致尤文肉瘤，而与包括 NFATC2 和 PATZ1 在内的其他与 ETS 家族无关的基因融合则会导致 EWSR1 非 ETS 融合的圆细胞肉瘤，即以前所说的尤文样肉瘤。RORß 编码视黄酸相关孤儿受体 ß，是一种核受体（NR），参与昼夜节律调节和癌症调控。RORß在肿瘤发生中的具体作用尚不清楚；不过，本病例报告表明，它可能是一种新的肿瘤实体的一部分。

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来源期刊

Oral Surgery Oral Medicine Oral Pathology Oral Radiology DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

3.80

自引率

6.90%

发文量

1217

审稿时长

2-4 weeks

期刊介绍： Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology is required reading for anyone in the fields of oral surgery, oral medicine, oral pathology, oral radiology or advanced general practice dentistry. It is the only major dental journal that provides a practical and complete overview of the medical and surgical techniques of dental practice in four areas. Topics covered include such current issues as dental implants, treatment of HIV-infected patients, and evaluation and treatment of TMJ disorders. The official publication for nine societies, the Journal is recommended for initial purchase in the Brandon Hill study, Selected List of Books and Journals for the Small Medical Library.