Precision diagnostics in pediatric bone tumors: practical considerations and practice updates

Pediatric bone tumors are increasingly sampled through image-guided biopsies. Evolution of molecular and diagnostic adjuncts have enabled diagnosis of these challenging lesions with limited diagnostic tissue. Radiologic correlation remains critical in the evaluation of these lesions and sampling quality can affect diagnostic interpretation. Our understanding of giant-cell lesions has expanded with the identification of highly specific histone mutations in giant cell tumors and chondroblastoma. Meanwhile, molecular testing has allowed validation of newer entities such as Xanthogranulomatous Epithelial tumor/Keratin-Positive Giant cell tumor while clarifying the well-defined lesions such as aneurysmal cyst. Tissue preservation and avoidance of harsh acid decalcification techniques is the mainstay to allow preservation of nucleic acids and application of newer ancillary studies. In this review, we provide an overview of the current diagnostic approach in pediatric bone tumors with key updates.