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Hum Pathol ; 147: 58-71, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38135060

RESUMO

Soft tissue tumors form part of a challenging domain in diagnostic pathology owing to their comparative rarity, astonishing histologic diversity, and overlap between entities. Many of these tumors are now known to be defined by highly recurrent, or, in some instances, unique molecular alterations. Insights from gene profiling continue to elucidate the wider molecular landscape of soft tissue tumors; many of these advances have been co-opted by immunohistochemistry (IHC) for diagnostic applications. There now exists a multitude of antibodies serving as surrogate markers of recurrent gene fusions, amplifications, and point mutations, which, in certain settings, can replace the need for more resource and time-intensive cytogenetic and molecular genetic analyses. IHC presents many advantages including rapid turnaround time, cost-effectiveness, and interpretative reproducibility. A sensible application of these immunohistochemical markers complemented by a working knowledge of the molecular pathogenesis of bone and soft tissue tumors permits accurate diagnosis in the majority of cases. In this review, we will outline some of these biomarkers while emphasizing molecular correlates and highlighting interpretative challenges and pitfalls.


Assuntos
Biomarcadores Tumorais , Neoplasias Ósseas , Análise Custo-Benefício , Imuno-Histoquímica , Neoplasias de Tecidos Moles , Humanos , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Imuno-Histoquímica/economia , Imuno-Histoquímica/métodos , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Neoplasias Ósseas/genética , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Valor Preditivo dos Testes , Técnicas de Diagnóstico Molecular/economia , Reprodutibilidade dos Testes
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