| Full text | |
| Author(s): |
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]
Total Authors: 9
|
| Affiliation: | [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
Total Affiliations: 6
|
| Document type: | Journal article |
| Source: | CANCER GENETICS; v. 258, p. 85-92, NOV 2021. |
| Web of Science Citations: | 0 |
| Abstract | |
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) | |
| FAPESP's process: | 19/13056-0 - Osteosarcoma in children under 10 years old: a genetic investigation to assist in the determination of prognosis and therapeutic orientation |
| Grantee: | Giovanna Manga Guimarães |
| Support Opportunities: | Scholarships in Brazil - Master |