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颈部具有 EWSR1-PATZ1 基因融合的圆形细胞肉瘤:病例报告及文献复习。

Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion in the Neck: Case Report and Review of the Literature.

机构信息

David Geffen School of Medicine at University of California, Los Angeles (UCLA), Los Angeles, California, U.S.A.

Department of Otolaryngology - Head and Neck Surgery, University of California, San Francisco (UCSF), San Francisco, California, U.S.A.

出版信息

Laryngoscope. 2020 Dec;130(12):E833-E836. doi: 10.1002/lary.28554. Epub 2020 Mar 5.

Abstract

EWSR1-PATZ1 is a rare gene fusion recently recognized to occur in round and spindle cell sarcomas. To date, fewer than 20 cases have been described in the literature. However, no dedicated case reports have detailed its presentation in the head and neck region. We recently cared for a 52-year-old woman with an isolated, single right level 5A cervical mass. Excisional biopsy at an external hospital revealed pathology results consistent with EWSR1-PATZ1 polyphenotypic round and spindle cell sarcoma. The patient subsequently underwent surgical excision of the tumor and right neck lymph node dissection followed by adjuvant chemoradiation. Laryngoscope, 2020.

摘要

EWSR1-PATZ1 是一种最近被认为存在于圆形和梭形细胞肉瘤中的罕见基因融合。迄今为止,文献中描述的病例少于 20 例。然而,尚无专门的病例报告详细描述其在头颈部的表现。我们最近治疗了一名 52 岁女性,其右侧 5A 水平有一个孤立的单一颈肿块。外院的切除活检显示病理结果符合 EWSR1-PATZ1 多表型圆形和梭形细胞肉瘤。患者随后接受了肿瘤和右侧颈部淋巴结清扫术的手术切除,以及辅助放化疗。《喉镜》,2020 年。

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