Dados do Trabalho

Título

PRAME gene expression: potential disease marker in osteosarcoma

Resumo

PRAME (Preferentially Expressed in Melanoma) is a gene located in region 22q11.22, encoding a 509 amino acids protein. PRAME expression conferred resistance to retinoic acid-induced proliferation arrest, differentiation, and apoptosis. When overexpressed in some tumors, confers growth or survival advantages by antagonizing RAR signaling. In the last decades, we could see many studies demonstrating that this gene is highly expressed in a series of tumors. Previous study of our group observed that 68% of the osteosarcoma samples presented expression of PRAME gene. In the present study, we propose to investigate quantitatively expression of PRAME gene in distinct groups of osteosarcoma patients. Sixty-one osteosarcoma samples, from 3 distinct groups of patients (younger than 10 years old at diagnosis, with poor evolution of disease and patients in remission of disease and treatment with no intercurrences) were selected for this study. The expression was investigated using Quantitative Real-Time Polymerase Chain Reaction method (qRT-PCR). The clinical parameters were collected from medical charts of patients. An increase in PRAME expression was observed in all sample, with variable levels of expression when considering all samples and when analyzed each group. In addition, no statistical difference was found when clinical data collected or group of patients were considered. Our results show that PRAME expression can be featured as a potential disease marker in OS and could be used to detect and identify circulating DNA or cells, even in association with another biomarker whose expression has already been associated PRAME expression, allowing a more specific detection. Therefore, since the focus in OS research field are directed in the way of understanding the mechanisms of how development and progression of OS works and what are the genomic alterations involved in this process, identification of biomarkers is important to help finding new ways to treat and detect the disease earlier and leading to changes in OS therapeutic scheme and diagnostic approaches.

Área

Genética/ Terapia de precisão