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Title: Investigation of IGF2, Hedgehog and fusion gene expression profiles in pediatric sarcomas
Authors: Souza, Robson Ramos de [UNIFESP]
Oliveira, Indhira Dias [UNIFESP]
Paniago, Mario del Giudice [UNIFESP]
Kato Yaoita, Fernando Hideki [UNIFESP]
Monteiro Caran, Eliana Maria [UNIFESP]
Pacheco Donato Macedo, Carla Renata [UNIFESP]
Petrilli, Antonio Sergio [UNIFESP]
Vieira Abib, Simone de Campos [UNIFESP]
Seixas Alves, Maria Teresa de [UNIFESP]
Toledo, Silvia Regina Caminada de [UNIFESP]
Universidade Federal de São Paulo (UNIFESP)
Keywords: Pediatric sarcomas
Soft tissue tumors
Ewing sarcoma
Synovial sarcoma
Gene fusions
IGF2 gene
Gene expression
Issue Date: 1-Aug-2014
Publisher: Churchill Livingstone
Citation: Growth Hormone & Igf Research. Edinburgh: Churchill Livingstone, v. 24, n. 4, p. 130-136, 2014.
Abstract: The childhood sarcomas are malignant tumors with high mortality rates. They are divided into two genetic categories: a category without distinct pattern karyotypic changes and the other category showing unique translocations that originate gene rearrangements. This category includes rhabdomyosarcoma (RMS), Ewing's sarcoma (ES) and synovial sarcoma (SS). Diverse studies have related development genes, such as; IGF2, IHH, PTCH1 and all and sarcomatogenesis.Objective: To characterize the RMS, ES and SS rearrangements, we quantify the expression of IGF2 IHH, PTCH1 and GUT genes and correlate molecular data with clinical parameters of patients.Design: We analyzed 29 RMS, 10 SS and 60 ES tumor samples by RT-PCR (polymerase chain reaction-reverse transcription) and qPCR (quantitative PCR).Results: Among the samples of ARMS, 50% had rearrangements of PAX3/7-FOXO1, 60% of ES samples were EWS-FLI1 positive and 90% of SS samples were positive for SS18-SSX1/2. in relation to the control reference samples (QPCR Human Reference Total RNA-Stratagene, Human Skeletal Muscle Total RNA-Ambion, Universal RNA Human Normal Tissues-Ambion), RMS samples showed a high IGF2 gene expression (p < 0.0001). Moreover, ES samples showed a low IGF2 gene expression (p < 0.0001) and high IHH (p < 0.0001), PTCH1 (p = 0.0173) and GM (p = 0.0113) gene expressions.Conclusions: the molecular characterization of IGF and Hedgehog pathway in these pediatric sarcomas may collaborate to enable a better understanding of the biological behavior of these neoplasms. (C) 2014 Published by Elsevier B.V.
ISSN: 1096-6374
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