GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population

Authors

  • Rodrigo Rosa de Stefani Pontifícia Universidade Católica do Rio Grande do Sul, Faculdade de Medicina. Porto Alegre (RS), Brazil. https://orcid.org/0000-0002-3395-7496
  • Elisa Cristina de Toni Pontifícia Universidade Católica do Rio Grande do Sul, Faculdade de Medicina. Porto Alegre (RS), Brazil. https://orcid.org/0000-0002-2087-646X
  • Caroline Brunetto de Farias Universidade Federal do Rio Grande do Sul, Centro de Pesquisa Experimental, Hospital das Clínicas (CPE-HCPA) e Instituto de Câncer Infantil. Porto Alegre (RS), Brazil. https://orcid.org/0000-0002-6435-6626
  • André Tesainer Brunetto Universidade Federal do Rio Grande do Sul, Centro de Pesquisa Experimental, Hospital das Clínicas (CPE-HCPA) e Instituto de Câncer Infantil. Porto Alegre (RS), Brazil. https://orcid.org/0000-0002-7958-1279
  • Algemir Lunardi Brunetto Universidade Federal do Rio Grande do Sul, Centro de Pesquisa Experimental, Hospital das Clínicas (CPE-HCPA) e Instituto de Câncer Infantil. Porto Alegre (RS), Brazil. https://orcid.org/0000-0003-0668-6894
  • Rafael Roesler Universidade Federal do Rio Grande do Sul. Instituto de Ciências Básicas da Saúde & CPE-HCPA, Departamento de Farmacologia. Porto Alegre (RS), Brazil. https://orcid.org/0000-0001-6016-2261
  • Clarice Sampaio Alho Pontifícia Universidade Católica do Rio Grande do Sul, Faculdade de Medicina. Porto Alegre (RS), Brazil. https://orcid.org/0000-0002-4819-9587
  • Deise Cristine Friedrich Pontifícia Universidade Católica do Rio Grande do Sul, Faculdade de Medicina. Porto Alegre (RS), Brazil. https://orcid.org/0000-0002-4613-5301

DOI:

https://doi.org/10.32635/2176-9745.RBC.2022v68n2.2350

Keywords:

sarcoma, Ewing, DAX-1 orphan nuclear receptor, microsatellite repeats/genetics, genetic predisposition to disease, oncogenes

Abstract

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.

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References

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Published

2022-03-23

How to Cite

1.
Stefani RR de, Toni EC de, Farias CB de, Brunetto AT, Brunetto AL, Roesler R, Alho CS, Friedrich DC. GGAA-Microsatellites of NR0B1 Promoter Region in Ewing’s Sarcoma Patients and Healthy Individuals of a Southern Brazilian Population. Rev. Bras. Cancerol. [Internet]. 2022 Mar. 23 [cited 2024 Jul. 22];68(2):e-012350. Available from: https://rbc.inca.gov.br/index.php/revista/article/view/2350

Issue

Vol. 68 No. 2 (2022): Apr./May/June

Section

ORIGINAL ARTICLE

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