Molecular and immunohistochemical testing of bone tumours: review and update

Abstract

Molecular and immunohistochemical testing of bone tumours: review and updatePrimary bone tumours can pose diagnostic problems due to their overlapping radiologic and histologic features. Given the recent advancement in our understanding of the biology of bone tumours, multiple immunohistochemical and molecular markers have been devised to aid in their diagnosis. This review provides brief updates on select bone tumours, including chondrosarcomas, benign chondrogenic tumours, osteosarcomas, benign osteogenic tumours, fibroosseous lesions, vascular tumours, osteoclastic giant cell-rich or cystic tumours, chordoma, adamantinoma, small round blue cell sarcomas, and others. We discuss their salient molecular features and novel immunohistochemical correlates, along with some tips to avoid common diagnostic pitfalls.

Novel and unusualUSP6fusion partners in aneurysmal bone cyst and their role in pathogenesis and histopathological evaluation of this disease

“…Morphological features alone rarely suffice and clinical data or molecular analysis is required. [1][2][3] The use of genetic testing in routine practice is helpful only in select cases to date, with ABC being one of them.…”