Contemporary Sarcoma Diagnosis, Genetics, and Genomics

作者: Inga-Marie Schaefer , Gregory M. Cote , Jason L. Hornick

DOI: 10.1200/JCO.2017.74.9374

关键词:

摘要: Sarcomas include diverse mesenchymal neoplasms with widely varied prognosis, clinical behavior, and treatment. Owing to their rarity histologic overlap, accurate diagnosis of sarcomas can be challenging. Our approach has evolved dramatically in the past few decades, where novel insights into molecular pathogenetic basis for (re)shaped contemporary diagnosis, building on a largely morphology- presentation–based strategy. Examples introduction immunohistochemical markers that serve as surrogates genetic alterations identification characteristic alterations. Accordingly, cytogenetic analyses, such conventional karyotyping, fluorescence situ hybridization, reverse transcription–polymerase chain reaction, targeted sequencing, have increasingly been incorporated routine diagnostic work-up these neoplasms. For those complex changes lack spec...

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