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鼻腔鼻窦结节性筋膜炎:一例伴有 USP6 重排的病例报告。

Sinonasal nodular fasciitis: report of a case with USP6 rearrangement.

机构信息

Section of Pathology, Department of Translational Research, University of Pisa, Italy.

Pathology Unit, Anna Meyer Children's University Hospital, Florence, Italy.

出版信息

Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Nov;136(5):e153-e158. doi: 10.1016/j.oooo.2023.07.002. Epub 2023 Jul 11.

DOI:10.1016/j.oooo.2023.07.002
PMID:37735002
Abstract

Nodular fasciitis (NF) is a benign myofibroblastic proliferation characterized by rapid growth, a self-limiting course, and USP6 gene rearrangement. Although it can arise in the head and neck region, very few cases of NF involving the sinonasal tract have been reported to date. Herein we report a case of NF involving the nasal cavity presenting as a polypoid well-defined mass causing obstructive symptoms in a male with a history of multiple local surgeries. Although the mass had an unusual clinical presentation, the histopathologic and immunohistochemical findings were consistent with NF. Fluorescent in situ hybridization performed with break-apart probes flanking the USP6 locus on chromosome 17p13 revealed the presence of USP6 gene rearrangement. The patient remained free of disease 124 months after surgical treatment. Considering its remarkably benign behavior despite its alarming clinical and histologic features, the distinction of NF from sinonasal malignant tumors is essential.

摘要

结节性筋膜炎(NF)是一种良性的肌纤维母细胞增生性疾病,其特征为生长迅速、具有自限性病程和 USP6 基因重排。尽管它可以发生在头颈部,但迄今为止,仅有少数涉及鼻窦道的 NF 病例被报道。本文报道了 1 例发生于鼻腔的 NF 病例,该患者为男性,既往有多次局部手术史,表现为息肉样界限清楚的肿块,引起阻塞症状。尽管该肿块的临床表现不常见,但组织病理学和免疫组织化学检查结果与 NF 一致。采用针对染色体 17p13 上 USP6 基因座侧翼的断裂探针进行荧光原位杂交显示存在 USP6 基因重排。患者在手术后 124 个月时仍无疾病。尽管 NF 具有令人警惕的临床和组织学特征,但因其具有显著的良性行为,因此与鼻旁恶性肿瘤的鉴别至关重要。

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Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Nov;136(5):e153-e158. doi: 10.1016/j.oooo.2023.07.002. Epub 2023 Jul 11.
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