Molecular Pathology and Testing in Bone Tumors: An Update

Bone tumors are uncommon tumors comprising a heterogeneous group of neoplasms encompassing benign, locally aggressive, and malignant tumors. Histopathological examination of bone tumors, combined with appropriate radiological correlation, has long been the cornerstone of an accurate diagnosis. However, in recent years, especially over the past decade, molecular testing has been increasingly integrated with histopathology and radiology to enhance diagnostic precision, particularly for tumors that exhibit overlapping radiological and histological features. Recently with the advancements in massive parallel sequencing, genetic characterization of bone tumors has been deciphered. Molecular testing has become the quintessential part in the diagnostic armamentarium for accurately detecting bone tumors. Introduction of molecular immunohistochemistry has provided a convenient substitute for next-generation sequencing or reverse transcription-polymerase chain reaction, as the former is faster, easy to perform, and interpret with widespread accessibility, especially in a resource-limited country like ours. In this review, we discuss briefly molecular etiopathogenesis and testing modalities along with application in routine diagnostic practice for diagnosing bone tumors.