Clinical Utility of Anchored Multiplex Solid Fusion Assay for Diagnosis of Bone and Soft Tissue Tumors
Autor: | Vikram Deshpande, Ivan Chebib, Jochen K. Lennerz, Yen-Lin Chen, Valentina Nardi, Kevin A. Raskin, Martin S. Taylor, Gregory M. Cote, Miguel Rivera, John T. Mullen, Yin P Hung, Gunnlaugur P. Nielsen, Edwin Choy, Joseph H. Schwab, Santiago A. Lozano Calderón |
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Rok vydání: | 2021 |
Předmět: |
Adult
Male Pathology medicine.medical_specialty Soft Tissue Neoplasm Adolescent Population Bone Neoplasms Soft Tissue Neoplasms Pathology and Forensic Medicine Fusion gene Young Adult Multiplex polymerase chain reaction Medicine Humans Multiplex education Child Aged education.field_of_study business.industry Soft tissue High-Throughput Nucleotide Sequencing Sarcoma Middle Aged medicine.disease Immunohistochemistry Surgery Female Anatomy business Multiplex Polymerase Chain Reaction |
Zdroj: | The American journal of surgical pathology. 45(8) |
ISSN: | 1532-0979 |
Popis: | Sarcoma diagnosis has become increasingly complex, requiring a combination of morphology, immunohistochemistry, and molecular studies to derive specific diagnoses. We evaluated the role of anchored multiplex polymerase chain reaction-based gene fusion assay in sarcoma diagnostics. Between 2015 and 2018, bone and soft tissue sarcomas with fusion assay results were compared with the histologic diagnosis. Of 143 sarcomas tested for fusions, 43 (30%) had a detectable fusion. In review, they could be classified into 2 main categories: (1) 31 tumors with concordant morphologic and fusion data; and (2) 12 tumors where the fusion panel identified an unexpected rearrangement that played a significant role in classification. The overall concordance of the fusion assay results with morphology/immunohistochemistry or alternate confirmatory molecular studies was 83%. Collectively, anchored multiplex polymerase chain reaction-based solid fusion assay represents a robust means of detecting targeted fusions with known and novel partners. The predictive value of the panel is highest in tumors that show a monomorphic cell population, round cell tumors, as well as tumors rich in inflammatory cells. However, with an increased ability to discover fusions of uncertain significance, it remains essential to emphasize that the diagnosis of bone and soft tissue neoplasms requires the integration of morphology and immunohistochemical profile with these molecular methods, for accurate diagnosis and optimal clinical management of sarcomas. |
Databáze: | OpenAIRE |
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