Diagnostyka z wykorzystaniem sekwencjonowania następnej generacji (NGS) w mięsakach — rekomendacje

Soft tissue and bone sarcomas are a group of rare, heterogeneous, high-mortality cancers, each with a different biology and clinical course. They constitute 20% of all childhood cancers and about 1% of all adult malignancies. Advanced pathomorphological-molecular diagnostics using classic methods is often insufficient to make the final diagnosis, and thus implement the right therapy. In these cases, next generation sequencing technology (NGS) is helpful, which allows for analysis of many genes and classes of mutations in one assay with minimal consumption of tissue material. Wide genetic profiling enables, in many cases, not only to make the correct diagnosis, but also to identify potential therapeutic goals for modern targeted therapies in oncology. In this paper, we present recommendations on the use of the NGS method in advanced genetic diagnosis of sarcomas in adults, children and adolescents.