PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
CONCLUSIONS: 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.
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.
CONCLUSIONS: 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.
摘要：
目的：这项回顾性非随机研究旨在确定结节性筋膜炎患者中与USP6的新的和罕见的融合伙伴。它已经被证明,结节性筋膜炎可以携带USP6融合的不同变体，它可以用于常规诊断，甚至可以确定该过程的生物学行为。
方法：将2011年至2022年在布拉格Motol大学医院检查的19例结节性筋膜炎纳入本研究。除了组织病理学评估，所有病例均使用免疫组织化学进行评估，RT-PCR和锚定多重RNA方法。同时分析了患者的主要人口学特征和相应的临床资料。
结果：这项研究提出了一个新的（KIF1A）和五个罕见的例子（TMP4，SPARC，EIF5A,MIR22HG,COL1A2）在19例结节性筋膜炎中与USP6融合。
结论：确定结节性筋膜炎中的USP6融合伙伴有助于了解此类病变的生物学特性。此外，它可以用于软组织诊断的常规组织病理学实践，尤其是在预防恶性肿瘤的误诊方面。
方法：将2011年至2022年在布拉格Motol大学医院检查的19例结节性筋膜炎纳入本研究。
结果：这项研究提出了一个新的（KIF1A）和五个罕见的例子（TMP4，SPARC，
结论：确定结节性筋膜炎中的USP6融合伙伴有助于了解此类病变的生物学特性。
