Balko Jan, Golas William, Kaspar Ludvik, Krskova Lenka, Strnadova Martina, Kotis Johana, Zamecnik Josef
Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
J Clin Pathol. 2025 May 25;78(6):399-403. doi: 10.1136/jcp-2023-209306.
AIMS: The purpose of this study is to report novel and unusual fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as in studying the biology of -related disorders. METHODS: A cohort of seven patients diagnosed with ABC examined between 2014 and 2023 at Motol University Hospital in Prague was included into this retrospective non-randomised study. All cases were analysed using histopathological evaluation, immunohistochemistry and Anchored multiplex RNA methods. Demographic characteristics and clinical data were also analysed. RESULTS: We identified two novel ( and ), three unusual ( and ) and two common () fusion partners with gene among all seven cases of ABC. CONCLUSIONS: Cases in our study were diagnosed as ABCs due to characteristic clinical and morphological presentation. However, not all cases are as self-evident, and molecular testing is necessary. The identification of these gene alterations can be useful in distinction between true ABC and ABC-like changes among many benign and malignant bone tumours.
目的:本研究旨在报告骨动脉瘤样囊肿(ABC)中新型且罕见的融合伴侣。这些发现可能有助于常规诊断以及研究相关疾病的生物学特性。 方法:纳入2014年至2023年期间在布拉格莫托尔大学医院确诊为ABC的7例患者队列,进行这项回顾性非随机研究。所有病例均采用组织病理学评估、免疫组织化学和锚定多重RNA方法进行分析。还分析了人口统计学特征和临床数据。 结果:在所有7例ABC病例中,我们鉴定出两个新型(和)、三个罕见(和)以及两个常见()的与基因相关的融合伴侣。 结论:我们研究中的病例因典型的临床和形态学表现被诊断为ABC。然而,并非所有病例都如此显而易见,分子检测是必要的。鉴定这些基因改变有助于区分许多良性和恶性骨肿瘤中的真性ABC和ABC样改变。
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