Novel and unusualUSP6fusion partners in aneurysmal bone cyst and their role in pathogenesis and histopathological evaluation of this disease

Abstract

AimsThe purpose of this study is to report novel and unusualUSP6fusion partners in aneurysmal bone cysts (ABCs). These findings may be useful in routine diagnostics as well as in studying the biology ofUSP6-related disorders.MethodsA 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.ResultsWe identified two novel (ZFXandIP6K2), three unusual (MEF2A, EIF1andCOL1A2) and two common (CDH11) fusion partners withUSP6gene among all seven cases of ABC.ConclusionsCases 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.