GGAA microsatellites of NR0B1 promoter region in Ewing's sarcoma patients and healthy individuals from a south Brazilian population

• Published in: Revista Brasileira de Cancerologia Vol. 68; no. 2
• Main Authors: Rodrigo Rosa de Stefani, Elisa Cristina de Toni, Caroline Brunetto de Farias, André Tesainer Brunetto, Algemir Lunardi Brunetto, Rafael Roesler, Clarice Sampaio Alho, Deise Cristine Friedrich
• Format: Journal Article
• Language: English
• Published: Instituto Nacional de Câncer (INCA) 01.03.2022
• Subjects: Ewing’s sarcoma, NR0B1, GGAA microsatellites, cancer susceptibility, oncogene
• ISSN: 2176-9745
• DOI: 10.32635/2176-9745.RBC.2022v68n2.2350

Introduction: The very aggressive soft tissue and bone pediatric tumor Ewing’s sarcoma (ES) is caused in most cases by the chromosomal translocation t(11;22)(q24;q12), which encodes an aberrant chimeric transcription factor (EWS-FLI1) that regulates target genes, including the critical oncogene NR0B1 (Xp21.2), via GGAA microsatellites. Objective: Our objective was to analyze the GGAA microsatellites of NR0B1 promoter region of ES patients and healthy subjects in our population. Methodology: Ten male ES patients and 71 adult healthy males from Rio Grande do Sul state, Brazil, were included in this study. Leukocyte DNA was extracted, amplified by PCR, sequenced by the Sanger method and analyzed by capillary electrophoresis. Total number of GGAA motifs, length of microsatellite in base pairs, number of segments separated by "A" insertions and greatest number of consecutive GGAA motifs were analyzed. Statistical analyses were performed in the SPSS® statistical software and p-value <0,05 was considered significant. Results: A total of 21 different alleles was identified in the 81 subjects, with 24.2 allele [(GGAA)7A(GGAA)7A(GGAA)10 sequence] being the most frequent, but when comparing the data between the two groups, no significant difference was found. Conclusion: We concluded that the studied sample was highly variable in terms microsatellite structure, including the presence of rare alleles, giving us the opportunity to describe our population which is a fundamental step on identifying genetic implications in ES tumorigenesis.