Recent progress of molecular pathology for bone tumors / 中华骨科杂志

ABSTRACT

Although classic morphology is the cornerstone for the diagnosis of bone tumors, the rapidly developed molecular pathology based on Next Generation Sequencing (NGS) has evolved current diagnostic techniques. At the same time, new disease entities based on molecular abnormalities were constantly reported, which converted the morphological pathological classifications into molecular categories. At present, bone tumors could be roughly classified as tumors with simple karyotypes and those with complex karyotypes by molecular alterations. The previous classification can be subclassified as tumors that carry specific translocations, somatic gene mutations, or those with specific amplifications. However, the later groups usually lack specific alterations. The present review discusses various updates on molecular pathology in detail based on new categories of bone tumors proposed by World Health Organization (WHO) in 2019 aiming to further provide guidance for evidenced-based treatment. Some examples are included, such as giant cell tumor of bone (H3F3A p.G34W), chondroblastoma (H3F3B p.K36M), chondrosarcoma (IDH1/2 mutation), aneurysmal bone cyst (USP6 rearrangements) and so on. All mutual alterations play an increasingly important role in reaching a diagnosis and in patients management.