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Molecular e functional characterization of bone and soft tissue sarcomas of children and adolescents

Abstract

Sarcomas are a heterogeneous group of malignant tumors with a high frequency in children. From a genetic standpoint, sarcomas can be divided into two main groups, which are distinguishable by cytogenetic findings. One group is characterized by the presence of simple karyotypes, near diploid, with a few specific chromosomal changes, which include the rhabdomyosarcoma (RMS), Ewing's sarcoma (ES) and synovial sarcoma (SS). The second group presents complex karyotypes with a high degree of genomic instability, in which it characterizes osteosarcoma (OS). Although chemotherapeutic agents and surgical techniques vary with the type of cancer and location of disease, sarcomas, bone and soft tissue share a common characteristic: the survival curves for these diseases remain stagnant in the last two decades, despite the numerous clinical protocols and various agents used. The objective of this study will be the evaluation of the expression profile of fusion and development genes in RMS, SE and SS, and the role of MAPK7 gene in OS. RT-PCR, qPCR will be performed to analyze the fusion genes: PAX3-FKHR, PAX7-FKHR, EWS-FLI1, SYT-SSX1, SYT-SSX2 and development genes: IGF2, IHH, GLI1 and PTCH1 in RMS, SE and SS tumors. In OS evaluate if the increased expression of the MAPK7 gene, observed in a previous study, is results from a mutation of this gene by sequencing. It will be performed MAPK7 gene silencing and later we will carry out technical viability, proliferation, apoptosis, migration and invasion in silenced and not silenced OS cells, so that we can elucidate the role of MAPK7 gene as a possible prognostic marker in OS. (AU)

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Scientific publications (4)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
TESSER-GAMBA, FRANCINE; PAOLILLO, ALINI TRUJILLO; PANIAGO, MARIO DEL GIUDICE; PETRILLI, ANTONIO SERGIO; SEIXAS ALVES, MARIA TERESA; GARCIA FILHO, REYNALDO JESUS; CAMINADA TOLEDO, SILVIA REGINA. MAPK7 variants related to prognosis and chemotherapy response in osteosarcoma. ANNALS OF DIAGNOSTIC PATHOLOGY, v. 46, JUN 2020. Web of Science Citations: 0.
TRUJILLO-PAOLILLO, ALINI; SALINAS-SOUZA, CAROLINA; DIAS-OLIVEIRA, INDHIRA; PETRILLI, ANTONIO S.; TOLEDO, SILVIA R. C. CYP Genotypes Are Associated with Toxicity and Survival in Osteosarcoma Patients. JOURNAL OF ADOLESCENT AND YOUNG ADULT ONCOLOGY, APR 2020. Web of Science Citations: 0.
SILVA LOPES, LUANA JOYCE; TESSER-GAMBA, FRANCINE; PETRILLI, ANTONIO SERGIO; DE SEIXAS ALVES, MARIA TERESA; GARCIA-FILHO, REYNALDO JESUS; CAMINADA TOLEDO, SILVIA REGINA. MAPK pathways regulation by DUSP1 in the development of osteosarcoma: Potential markers and therapeutic targets. Molecular Carcinogenesis, v. 56, n. 6, p. 1630-1641, JUN 2017. Web of Science Citations: 8.
TESSER-GAMBA, FRANCINE; DA SILVA LOPES, LUANA JOYCE; PETRILLI, ANTONIO SERGIO; CAMINADA TOLEDO, SILVIA REGINA. MAPK7 Gene Controls Proliferation, Migration and Cell Invasion in Osteosarcoma. Molecular Carcinogenesis, v. 55, n. 11, p. 1700-1713, NOV 2016. Web of Science Citations: 11.

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