Bone and soft tissue tumors constitute a heterogeneous group of neoplasms. Rendering a definitive diagnosis is complicated not only by the large volume of existing histologic subtypes, but also frequently by the presence of overlapping clinical, histologic, immunohistochemical, and/or radiographic features. The underlying molecular events in these neoplasms play a critical ancillary role in establishing a precise diagnosis and their identification for many subtypes is imperative for directing targeted therapy. Selection of molecular testing for individual specimens should be carefully considered in concert with the clinicohistopathologic features and differential diagnostic considerations. Familiarization with the numerous and complex molecular events in this cancer category as well as molecular test options is of value in providing optimal care.
Drs. Julia A. Bridge and Scott R. Lauer provide consultative expertise in the diagnosis of soft tissue and bone lesions at Nebraska Medicine, regionally, and nationally. In addition to the cytopathologic and/or histopathologic evaluation of individual lesions, imaging studies are routinely reviewed with our bone and soft tissue radiology experts.
Bone and soft tissue tumors in both adults and children are also evaluated at the molecular level and a broad menu of tests are offered including:
- Conventional cytogenetic analysis with karyotyping
- Molecular cytogenetic or fluorescence in situ hybridization (FISH) analysis to include numerous custom probe sets for entities such as Ewing sarcoma, rhabdomyosarcoma, clear cell sarcoma, dermatofibrosarcoma protuberans, liposarcoma, low grade fibromyxoid sarcoma, nodular fasciitis, lipoblastoma, and aneurysmal bone cyst, among others
- Molecular diagnostics for fusion transcript analysis for Ewing sarcoma, rhabdomyosarcoma, and synovial sarcoma
- Mutation testing by NGS for gastrointestinal stromal tumor, desmoid fibromatosis, capillary hemangioma, and cartilaginous neoplasms among others
Medical or technical questions can be directed to Julia Bridge, MD, FACMG 402-559-7063, Ann Crowley in the laboratory at 402-559-5104 or Dave Varga at 402-559-9142.