Molecular pathology in the diagnosis of bone tumors: current concepts

Abstract

The integrative evaluation of histology and corresponding imaging is essential for the classification of bone tumors. Until afew years ago, there were hardly any molecular markers that could be used for diagnostic purposes. However, exome- and genome-wide sequencing analyses have since uncovered anumber of tumor-specific aberrations that can be very helpful in ambiguous cases. In addition to characteristic gene mutations (e.g. H3F3A and H3F3B in giant-cell tumors and chondroblastomas), the detection of fusion transcripts (e.g. structural rearrangements in the AP‑1 transcription factors FOS and FOSB in osteoid osteomas and osteoblastomas) plays an increasing role. The article gives an overview of the current state of knowledge of the most important alterations in bone tumors.