Molecular Diagnostics of Uncommon Soft Tissue and Bone Tumors

This thesis focuses on molecular pathology to diagnose uncommon soft tissue and bone (STB) tumors. In the first part of this thesis, we introduced two novel techniques applied for the diagnosis of (STB) tumors, including the CellientTM cell block method and the NanoString nCounter platform. We noted that the morphological details of tumor cells were easily interpreted and diagnostically relevant IHC antibodies could be applied with the CellientTM cell block method. Moreover, DNA and RNA quality was well preserved by this methanol-based method. The NanoString nCounter FusionPlex hybridization assay achieved excellent diagnostic coverage for the detection of fusion transcripts in five sarcomas, including Ewing sarcoma, synovial sarcoma, myxoid liposarcoma, alveolar rhabdomyosarcoma, and desmoplastic small round cell tumor. In addition, we showed a strong correlation between the relative value of NanoString assay and the level of diagnostic evidence in daily practice. In the second part of this thesis, we illustrated the significance of novel molecular techniques in the diagnosis of rare STB tumors, in particular myoepithelial tumors, ossifying fibromyxoid tumor, soft tissue aneurysmal bone cyst, and desmoplastic fibroma of bone. Given the relative rarity of these uncommon STB tumors, the study of larger series may profit from national or international collaboration