Broski Stephen M, Wenger Doris E
Department of Radiology, Mayo Clinic, Charlton Building North, 1st Floor, 200 First Street SW , Rochester, MN, 55905, USA.
Skeletal Radiol. 2023 Mar;52(3):297-313. doi: 10.1007/s00256-022-04146-x. Epub 2022 Aug 13.
Since the discovery of USP6 gene rearrangements in aneurysmal bone cysts nearly 20 years ago, we have come to recognize that there is a family of USP6-driven mesenchymal neoplasms with overlapping clinical, morphologic, and imaging features. This family of neoplasms now includes myositis ossificans, aneurysmal bone cyst, nodular fasciitis, fibroma of tendon sheath, fibro-osseous pseudotumor of digits, and their associated variants. While generally benign and in many cases self-limiting, these lesions may undergo rapid growth, and be confused with malignant bone and soft tissue lesions, both clinically and on imaging. The purpose of this article is to review the imaging characteristics of the spectrum of USP6-driven neoplasms, highlight key features that allow distinction from malignant bone or soft tissue lesions, and discuss the role of imaging and molecular analysis in diagnosis.
自近20年前在骨动脉瘤样囊肿中发现USP6基因重排以来,我们逐渐认识到存在一类由USP6驱动的间叶性肿瘤,它们具有重叠的临床、形态学和影像学特征。这类肿瘤现在包括骨化性肌炎、骨动脉瘤样囊肿、结节性筋膜炎、腱鞘纤维瘤、指纤维骨性假瘤及其相关变体。虽然这些病变通常为良性,且在许多情况下具有自限性,但它们可能会迅速生长,在临床和影像学上都可能与恶性骨和软组织病变相混淆。本文的目的是回顾USP6驱动的肿瘤谱系的影像学特征,强调有助于与恶性骨或软组织病变相鉴别的关键特征,并讨论影像学和分子分析在诊断中的作用。