Genomic characterization of rare visceral sarcomas through next generation sequencing

Visceral sarcomas are rare malignancies of mesenchymal origin targeting visceral organs and characterized by a heterogenous clinical and biological profile and dismal prognosis. Due to their rarity and heterogeneity, defining the molecular profile of most histotypes represents a daunting task. Therefore, we aimed to investigate rare visceral sarcomas including cardiac, uterine sarcomas and gastrointestinal stromal tumors (GISTs) by next-generation sequencing (NGS) techniques, including RNA-Sequencing (RNA-Seq), Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), combined with the development of computational and experimental pipelines to analyze and validate the outputs. Furthermore, a poor understanding of the disease coupled with the limited efficacy of the currently available targeted therapies negatively affects our healthcare system. Consequently, in line with the Strategia Nazionale di Specializzazione Intelligente (SNSI) and Programma Operativo Nazionale (PON), our research might contribute to the development of more efficient targeted therapies, which could lower the manufacturing costs but, most importantly, reduce patients’ toxicity levels and diminish disease spread. Ultimately, in agreement with the Programma Nazionale per la Ricerca (PNR), identifying targetable biomarkers for each visceral sarcoma histotype would also favor the administration of screening tests, enhancing early diagnosis and treatment efficacy.