Abstract
Background: Aneurysmal bone cyst (ABC) is a benign but locally aggressive bone lesion. USP6 gene rearrangements have been proposed as a key diagnostic marker, detectable via fluorescence in situ hybridization (FISH). However, its clinical utility and correlation with recurrence remains unclear. This study evaluates USP6 FISH as a diagnostic tool and investigates whether USP6 positivity is associated with an increased recurrence risk.
Materials & methods: This retrospective study analyzed 87 patients with primary ABC at Klinikum rechts der Isar, Technical University of Munich (1991–2021). Histopathological and radiological criteria were used for diagnosis, with USP6 FISH testing performed on available specimens. Statistical analyses, including Kaplan–Meier recurrence estimates and Cox regression were conducted to assess the association between USP6 status and recurrence.
Conclusion: USP6 FISH is a highly specific but moderately sensitive tool for diagnosing primary ABC. While a positive USP6 result supports the diagnosis, clinical and histopathological correlation remains essential. Importantly, USP6 positivity showed no significant correlation with recurrence, suggesting that surgical factors play a larger role. These findings confirm the diagnostic relevance of USP6 FISH but indicate that recurrence risk should be assessed independently of molecular status.
Keywords
Aneurysmatic bone cyst, UPS-6, Recurrence aneurysmatic bone cyst