Unusual fusion gene rearrangements in patients with nodular fasciitis: a study of rare and novel USP6 fusion partners with a review of the literature.

IF 4.6 Q2 MATERIALS SCIENCE, BIOMATERIALS

ACS Applied Bio Materials Pub Date : 2024-05-17 DOI:10.1136/jcp-2023-208768

Jan Balko, Martin Stanek, Lenka Krskova, Josef Zamecnik

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引用次数: 0

Abstract

Aims: This retrospective non-randomised study aims to identify new and rare fusion partners with USP6 in the setting of nodular fasciitis. It has been proven, that nodular fasciitis can harbour different variants of USP6 fusions, which can be used in routine diagnostics and even determine the biological behaviour of the process.

Methods: A total of 19 cases of nodular fasciitis examined between 2011 and 2022 at Motol University Hospital in Prague were included into this study. Next to the histopathological evaluation, all cases were assessed using immunohistochemistry, RT-PCR and Anchored multiplex RNA methods. Patient's main demographic characteristics and corresponding clinical data were also analysed.

Results: This study presents one novel (KIF1A) and five rare examples (TMP4, SPARC, EIF5A, MIR22HG, COL1A2) of fusion partners with USP6 among 19 cases of nodular fasciitis.

Conclusion: Identification of USP6 fusion partners in nodular fasciitis helps to understand the biology of such lesions. Moreover, it can be useful in routine histopathological practice of soft-tissues diagnostics, especially in preventing possible misdiagnosis of malignancy.

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结节性筋膜炎患者的异常融合基因重排：对罕见和新型 USP6 融合伙伴的研究及文献综述。

目的：这项回顾性非随机研究旨在鉴别结节性筋膜炎与 USP6 的新的罕见融合伙伴。事实证明，结节性筋膜炎可能存在不同的 USP6 融合变体，这些变体可用于常规诊断，甚至可确定该过程的生物学行为：本研究共纳入了布拉格莫托尔大学医院在 2011 年至 2022 年间检查的 19 例结节性筋膜炎病例。除组织病理学评估外，所有病例均采用免疫组化、RT-PCR 和 Anchored 多重 RNA 方法进行评估。研究还分析了患者的主要人口学特征和相应的临床数据：结果：本研究在19例结节性筋膜炎病例中发现了一种新型（KIF1A）和五种罕见（TMP4、SPARC、EIF5A、MIR22HG、COL1A2）与USP6的融合伙伴：结节性筋膜炎中 USP6 融合伙伴的鉴定有助于了解此类病变的生物学特性。结论：在结节性筋膜炎中鉴定 USP6 融合伙伴有助于了解此类病变的生物学特性，而且在软组织诊断的常规组织病理学实践中也很有用，尤其是在防止可能的恶性肿瘤误诊方面。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

ACS Applied Bio Materials Chemistry-Chemistry (all)

CiteScore

9.40

自引率

2.10%

发文量

464