Keratin-Positive Giant Cell-Rich Tumor of Bone Harboring an HMGA2::NCOR2 Fusion: Two Cases, Including a Patient With Metastatic Disease, and Review of the Literature

Int J Surg Pathol. 2024 May;32(3):556-564. doi: 10.1177/10668969231185076. Epub 2023 Jul 17.

Abstract

Giant cell-rich lesions of bone represent a heterogeneous group of entities which classically include giant cell tumor of bone, aneurysmal bone cyst, nonossifying fibroma, and Brown tumor of hyperparathyroidism. A recently described subset of giant cell-rich tumors involving bone and soft tissue has been characterized by recurrent HMGA2::NCOR2 fusions and keratin expression. The overlapping clinical, radiographic, and morphological features of these giant cell-rich lesions provide a unique diagnostic challenge, particularly on biopsy. We present 2 additional cases of keratin-positive giant cell-rich tumor of bone with HMGA2::NCOR2 fusions, including 1 patient who developed metastatic disease.

Keywords: bone; molecular pathology; soft tissue.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Bone Cysts, Aneurysmal*
  • Bone Neoplasms* / diagnosis
  • Bone Neoplasms* / genetics
  • Bone Neoplasms* / metabolism
  • Bone and Bones / pathology
  • Giant Cell Tumor of Bone* / diagnosis
  • Giant Cell Tumor of Bone* / genetics
  • Giant Cells / pathology
  • Humans
  • Keratins
  • Neoplasms, Second Primary* / pathology
  • Nuclear Receptor Co-Repressor 2

Substances

  • Keratins
  • NCOR2 protein, human
  • Nuclear Receptor Co-Repressor 2
  • HMGA2 protein, human