Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdornyosarcoma tumors

Autor(es)

de Souza, Robson Ramos ^{[1, 2]} ; Oliveira, Indhira Dias ^{[1, 2]} ; Monteiro Caran, Eliana Maria ^[1] ; de Seixas Alves, Maria Teresa ^{[1, 3]} ; Abib, Simone ^{[1, 4]} ; Caminada Toledo, Silvia Regina ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Pediat, Pediat Oncol Inst GRAACC, BR-04023062 Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, Dept Morphol & Genet, BR-04023062 Sao Paulo, SP - Brazil

^[3] Univ Fed Sao Paulo, Dept Pathol, BR-04023062 Sao Paulo, SP - Brazil

^[4] Univ Fed Sao Paulo, Div Pediat Surg, BR-04023062 Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: GROWTH HORMONE & IGF RESEARCH; v. 22, n. 6, p. 245-249, DEC 2012.
• Citações Web of Science: 7

Resumo

The purpose of our study was to investigate the prevalence of the PAX3/7-FKHR fusion genes and quantify the IGF2 gene expression in rhandomyosarcoma (RMS) samples. Soft tissue sarcomas account 5% of childhood cancers and 50% of them are RMS. Morphological evaluation of pediatric RMS has defined two histological subtypes, embryonal (ERMS) and alveolar (ARMS). Chromosomal analyses have demonstrated two translocations associated with ARMS, resulting in the PAX3/7-FKHR rearrangements. Reverse transcriptase-polymerase chain reaction (RT-PCR) is extremely useful in the diagnosis of ARMS positive for these rearrangements. Additionally, several studies have shown a significant involvement of IGF pathway in the pathogenesis of RMS. The presence of PAX3/7-FKHR gene fusions was studied in 25 RMS samples from patients attending the IOP-GRAACC/UNIFESP and three RMS cell lines by RT-PCR. IGF2 gene expression was quantified by qPCR and related with clinic pathological parameters. Of the 25 samples, nine (36%) were ARMS and 16(64%) were ERMS. PAX3/7-FKHR gene fusions expression was detected in 56% of ARMS tumor samples. IGF2 overexpression was observed in 80% of samples and could indicate an important role of this pathway in RMS biology. (C) 2012 Elsevier Ltd. All rights reserved. (AU)

• Processo FAPESP: 07/53869-3 - Investigação de eventos genéticos envolvidos no processo de tumorigênese do osteossarcoma
• Beneficiário: Silvia Regina Caminada de Toledo
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 04/12150-8 - Expressao genica e polimorfismo em osteossarcoma.
• Beneficiário: Silvia Regina Caminada de Toledo
• Modalidade de apoio: Auxílio à Pesquisa - Regular