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Multimodality imaging features of USP6-associated neoplasms

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Abstract

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.

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  1. Department of Radiology, Mayo Clinic, Charlton Building North, 1st Floor, 200 First Street SW , Rochester, MN, 55905, USA

    Stephen M. Broski & Doris E. Wenger

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Broski, S.M., Wenger, D.E. Multimodality imaging features of USP6-associated neoplasms. Skeletal Radiol 52, 297–313 (2023). https://doi.org/10.1007/s00256-022-04146-x

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