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<p>Malignant aneurysmal bone cyst is not a well described concept. We present a case of a morphologically malignant bone tumour, interpreted as a malignant aneurysmal bone cyst with areas of characteristic morphology, a myofibroblastic phenotype, and a proven PAFAH1B1:USP6 fusion. The radiologic, morphologic and molecular features of this unusual case are discussed, along with the spectrum of atypical/malignant USP6 translocated tumours.</p>

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Primary malignant aneurysmal bone cyst of the metatarsal with PAFAH1B1::USP6 fusion: expanding the clinicopathologic spectrum of malignant USP6 translocated neoplasms

  • 期刊论文

  • 发表日期：

    2026年3月25日

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  • James Bennett,
  • Fiona Bonar,
  • Wendy Brown,
  • Pranav Dorwal,
  • Narelle Barton,
  • Martin Lowe,
  • Alison L. Cheah

摘要

Malignant aneurysmal bone cyst is not a well described concept. We present a case of a morphologically malignant bone tumour, interpreted as a malignant aneurysmal bone cyst with areas of characteristic morphology, a myofibroblastic phenotype, and a proven PAFAH1B1:USP6 fusion. The radiologic, morphologic and molecular features of this unusual case are discussed, along with the spectrum of atypical/malignant USP6 translocated tumours.