Osteosarcoma in children under 10 years old: a genetic investigation to assist in the determination of prognosis and therapeutic orientation

• Grant number: 19/13056-0
• Support Opportunities: Scholarships in Brazil - Master
• Start date: June 01, 2020
• End date: May 31, 2021
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Silvia Regina Caminada de Toledo
• Grantee: Giovanna Manga Guimarães
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil

Abstract

Osteosarcoma (OS) is malignant bone tumor derived from primitive mesenchyme with a high incidence peak among children and adolescents, during the second decade of life. It is known that the OS is the most common primary neoplasia of the bone and that it has a high risk of metastasis, the lung being the most common site. A second group of patients, who are rarer, includes children under 10 years old who develop the disease. The few studies that investigate this group of patients diverge between their differences and similarities concerning the ones who develop the OS during the second decade of life, which makes it extremely necessary to develop more studies in order to investigate the need of specific treatment and different clinical management for each group. The OS can also be related to some cancer predisposition syndromes, and in some cases the disease can develop in children under 10 years. The genes associated to these syndromes have been pointed as strong candidates for the study of OS predisposition cases, which demonstrates the need of further investigations. Thus, the aim of this study is to investigate, among OS patients in unexpected age range, the presence of germline mutations and to identify genes that contribute to the disease development. For this, blood and tumor samples of OS patients will be submitted to next generation sequencing in order to investigate prognostic genes and genes related to OS predisposition syndromes. The genetic and molecular findings will be correlated with the clinical and anatomopathological aspects of the patients. (AU)

Scientific publications

(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)

GUIMARAES, G. M.; TESSER-GAMBA, F.; PETRILLI, A. S.; DONATO-MACEDO, C. R. P.; ALVES, M. T. S.; DE LIMA, F. T.; GARCIA-FILHO, R. J.; OLIVEIRA, R.; TOLEDO, S. R. C.. Molecular profiling of osteosarcoma in children and adolescents from different age groups using a next-generation sequencing panel. CANCER GENETICS, v. 258, p. 85-92, NOV 2021. (19/13056-0)

GUIMARAES, GIOVANNA M.; GAMBA, FRANCINE TESSER; PETRILLI, ANTONIO SERGIO; ALVES, MARIA TERESA S.; GARCIA-FILHO, REINALDO J.; DE OLIVEIRA, RENATO; TOLEDO, SILVIA REGINA C.. Osteosarcoma under the age of 10: using next-generation sequencing panel for tumor profile investigation.. Cancer Research, v. 81, n. 13, p. 2-pg., 2021-07-01. (19/13056-0)