| Texto completo | |
| Autor(es): |
Guimaraes, G. M.
[1, 2]
;
Tesser-Gamba, F.
[1]
;
Petrilli, A. S.
[1]
;
Donato-Macedo, C. R. P.
[1]
;
Alves, M. T. S.
[3]
;
de Lima, F. T.
[1, 4]
;
Garcia-Filho, R. J.
[1, 5]
;
Oliveira, R.
[1, 6]
;
Toledo, S. R. C.
[1, 2]
Número total de Autores: 9
|
| Afiliação do(s) autor(es): | [1] Univ Fed Sao Paulo, Pediat Oncol Inst, Pediat Dept, GRAACC Grp Apoio Adolescente & Crianca Canc, Pedro Toledo 572, Sao Paulo, SP - Brazil
[2] Univ Fed Sao Paulo, Morphol & Genet Dept, Genet Discipline, Sao Paulo, SP - Brazil
[3] Univ Fed Sao Paulo, Pathol Dept, Sao Paulo, SP - Brazil
[4] Univ Fed Sao Paulo, Gynecol Dept, Sao Paulo, SP - Brazil
[5] Univ Fed Sao Paulo, Orthoped & Traumatol Dept, Oncol Orthoped Grp, Sao Paulo, SP - Brazil
[6] Univ Fed Sao Paulo, Surg Dept, Sao Paulo, SP - Brazil
Número total de Afiliações: 6
|
| Tipo de documento: | Artigo Científico |
| Fonte: | CANCER GENETICS; v. 258, p. 85-92, NOV 2021. |
| Citações Web of Science: | 0 |
| Resumo | |
Osteosarcoma (OS) is a malignant bone tumor, with a peak of incidence in the second decade of life and possibly associated with the presence of germline mutations. Besides, clinicians have pointed to a second, rarer group of patients that develops OS before 10 years old. Here we access, through next-generation sequencing (NGS) strategy, the genetic alterations present in OS and blood samples from patients diagnosed before and during the second decade of life. A custom NGS panel, designed for the main alterations described in childhood and adolescence neoplasms, named Oncomine Childhood Cancer Research Assay (OCCRA (c)), was used. Of all 84 OS samples investigated, 42 (50%) presented some somatic variant, with TP53, MYC, CDK4, RB1 and PDGFRA genes harboring the most observed genetic variants. MYC CNVs were more frequent in tumors from patients diagnosed before 10 years old (X-1(2) = 5.18, p = 0.023). Additionally, patients diagnosed during the second decade of life presented a higher percentage of somatic and germline variants. Germline variants in TP53 and RB1 were found in 5 of the 11 (45.5%) patients analyzed. Clinical variables and tumor histopathological characteristics were also collected and correlated with our molecular findings. (C) 2021 Elsevier Inc. All rights reserved. (AU) | |
| Processo FAPESP: | 19/13056-0 - Osteossarcoma em crianças menores de 10 anos: investigação genética para auxiliar na determinação do prognóstico e na orientação terapêutica |
| Beneficiário: | Giovanna Manga Guimarães |
| Modalidade de apoio: | Bolsas no Brasil - Mestrado |