New molecular entities of soft tissue and bone tumors.

Abstract

The advances of molecular techniques have led to the refinement of the classification of mesenchymal tumors, leading to newly introduced entities in the recently published fifth edition of the WHO Classification of Soft Tissue and Bone Tumors, which are discussed in this review. For the first time, entities are included of which the name refers to the underlying molecular alteration including round cell sarcoma with EWSR1 -non-ETS fusions, CIC -rearranged sarcoma, and sarcoma with BCOR genetic alteration. EWSR1-SMAD3 -positive fibroblastic tumor and NTRK -rearranged spindle cell neoplasm are provisionally included as 'emerging' entities based on the underlying molecular alteration, though the entity still needs to be better defined. Other newly recognized entities are not named after their molecular change, but the molecular alteration helped to delineate them from others: atypical spindle cell/pleomorphic lipomatous tumor, anastomosing hemangioma, angiofibroma of soft tissue, myxoid pleomorphic liposarcoma, and poorly differentiated chordoma. Classification of mesenchymal tumors is increasingly based on the underlying molecular changes, although this cannot be interpreted separately from clinical, morphological, and immunohistochemical characteristics.