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Title: Investigation of PAX3/7-FKHR fusion genes and IGF2 gene expression in rhabdornyosarcoma tumors
Authors: Souza, Robson Ramos de [UNIFESP]
Oliveira, Indhira Dias [UNIFESP]
Monteiro Caran, Eliana Maria [UNIFESP]
Seixas Alves, Maria Teresa de [UNIFESP]
Abib, Simone de Campos Vieira [UNIFESP]
Toledo, Silvia Regina Caminada de [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Keywords: soft tissue tumors
gene fusion
IGF2 gene
Issue Date: 1-Dec-2012
Publisher: Churchill Livingstone
Citation: Growth Hormone & Igf Research. Edinburgh: Churchill Livingstone, v. 22, n. 6, p. 245-249, 2012.
Abstract: 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 B.V. All rights reserved.
ISSN: 1096-6374
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