Study of gene alterations in samples of uterine sarcomas and uterine carcinosarcomas: Identification of markers for differential diagnosis and treatment

Abstract

Uterine sarcomas are rare mesodermal tumors that comprise approximately 3% of all cancers in this organ. They commonly show histologic diversity and aggressive behavior, with early spread and high mortality rates. Although carcinosarcomas (CS) have been reclassified recently as carcinomas, we included them in our sample for comparison purposes. Because of its diversity and rarity, there is no consensus related to the risk factors for poor prognosis and appropriate treatment for these tumors. In this context, informations about their genetic and protein profiles can help in these tumors diagnosis and prognosis as well as the understanding of its biology and clinical behavior. The objective of this project is to verify the presence of genetic alterations in 200 genes with participationin in cancinogenesis process in different types of uterine sarcomas and CS, for discovery of potential biological markers for each of these neoplasias. In addition, it intends to evaluate the effect of these changes in the protein expression. We will to perform the Ion Torrent platform analysis in paraffin-embedded material (using the AmpliSeq method, Life Technologies). In total, it will be evaluated 100 samples of uterine sarcomas and CS (including: 56 leiomyosarcomas, 15 endometrial stromal sarcomas, 3 sarcomas undifferentiated, 2 adenossarcomas and 24 CS). Tissues were provided by the Hospital Santa Marcelina, Instituto Brasileiro de Combate ao Cancer (IBCC) and Instituto do Cancer do Estado de São Paulo (ICESP), all in São Paulo, Brazil. Validations will be performed by immunohistochemistry. All data will be submitted to statistical analysis.