Molecular findings in maxillofacial bone tumours and its diagnostic value

Virchows Arch. 2020 Jan;476(1):159-174. doi: 10.1007/s00428-019-02726-2. Epub 2019 Dec 14.


According to the WHO, mesenchymal tumours of the maxillofacial bones are subdivided in benign and malignant maxillofacial bone and cartilage tumours, fibro-osseous and osteochondromatous lesions as well as giant cell lesions and bone cysts. The histology always needs to be evaluated considering also the clinical and radiological context which remains an important cornerstone in the classification of these lesions. Nevertheless, the diagnosis of maxillofacial bone tumours is often challenging for radiologists as well as pathologists, while an accurate diagnosis is essential for adequate clinical decision-making. The integration of new molecular markers in a multidisciplinary diagnostic approach may not only increase the diagnostic accuracy but potentially also identify new druggable targets for precision medicine. The current review provides an overview of the clinicopathological and molecular findings in maxillofacial bone tumours and discusses the diagnostic value of these genetic aberrations.

Keywords: Fibro-osseous lesions; Genetic aberrations; Maxillofacial bone tumours; Multidisciplinary diagnostic approach.

Publication types

  • Review

MeSH terms

  • Chondrosarcoma / genetics
  • Chondrosarcoma / pathology
  • Facial Bones / pathology*
  • Fibrous Dysplasia of Bone / genetics
  • Fibrous Dysplasia of Bone / pathology
  • Granuloma, Giant Cell / pathology
  • Humans
  • Maxillary Neoplasms / diagnosis
  • Maxillary Neoplasms / genetics
  • Maxillary Neoplasms / pathology*
  • Skull Neoplasms / diagnosis
  • Skull Neoplasms / genetics
  • Skull Neoplasms / pathology*