TFE3改变鼻腔血管周围上皮样细胞瘤（PEComa）与新的TRAF3::TFE3融合-一个扩大分子遗传谱的病例报告和关于头颈部PEComa的简要文献综述

IF 2.8 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2025-08-18 DOI:10.1002/gcc.70075

Zhengyu Samuel Chua, Michael Michal, Fredrik Petersson

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引用次数: 0

摘要

血管周围上皮样细胞肿瘤（PEComas）是一类独特的肿瘤，具有独特的肌黑素细胞免疫组织化学表型，很少发生在头颈部。我们在此报告一例18岁男性鼻窦PEComa的临床病理特征，并伴有新型TRAF3::TFE3融合。病例表现：患者表现为浸润性鼻腔肿瘤。组织学检查显示肿瘤由片状和巢状上皮样细胞组成，胞浆为嗜酸性颗粒状，细胞核圆形至卵圆形，核仁不明显，无有丝分裂活性。肿瘤细胞中平滑肌肌动蛋白和核TFE3呈强弥漫性表达，HMB45呈斑片状表达。肿瘤细胞对Melan a没有免疫反应性。分子遗传学分析显示一种新的TRAF3(ex8)::TFE3（ex6）融合。结论本报告有助于扩大头颈部tfe3改变PEComas的分子谱，并讨论这些肿瘤的鉴别诊断。我们进一步描述了对tfe3改变PEComas的不断发展的理解。

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TFE3-Altered Perivascular Epithelioid Cell Tumour (PEComa) of the Nasal Cavity With a Novel TRAF3::TFE3 Fusion—A Report of a Case Expanding the Molecular Genetic Spectrum and a Brief Literature Review on PEComas of the Head and Neck Region

Background

Perivascular epithelioid cell tumours (PEComas) constitute a unique group of neoplasms with a distinctive myomelanocytic immunohistochemical phenotype and uncommonly occur in the head and neck region. We herein report the clinicopathologic features of a case of a sinonasal PEComa occurring in an 18-year-old male with a novel TRAF3::TFE3 fusion.

Case Presentation

The patient presented with an infiltrative nasal cavity tumour. Histologic examination showed a tumour composed of sheets and nests of epithelioid cells with clear to eosinophilic granular cytoplasm, round to oval nuclei, inconspicuous nucleoli and no mitotic activity. The tumour cells featured strong diffuse expression of smooth muscle actin and nuclear TFE3, with patchy expression of HMB45. Neoplastic cells showed no immune-reactivity for Melan A. Molecular genetic analysis revealed a novel TRAF3(ex8)::TFE3(ex6) fusion.

Conclusions

This report contributes to the expanding molecular spectrum of TFE3-altered PEComas of the head and neck region and discusses the differential diagnoses of these tumours. We further describe the evolving understanding of TFE3-altered PEComas.

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.