Correlation between mutation frequency and prognosis of sarcoma

Keywords

sarcoma - mutation - epidemiology

Background: Sarcoma is a heterogeneous group of cancers with varying prognoses and subtypes. From a genetic standpoint, it is equally diverse, ranging from simple chromosomal translocations to mutations in canonical drivers.

Objective: To describe the frequency of mutations in sarcomas and correlate them to the epidemiological profiles and prognosis of patients.

Methodology: The research was conducted using the National Cancer Institute Genomic Data Commons (GDC) database, analyzing information related to the frequency of genetic mutations in 148 cases of soft tissue cancer (sarcoma). First, the genes and types of mutations - deletion, insertion, and substitution - were analyzed. Subsequently, a more specific search was conducted on the 4 genes with the highest number of cases to identify the type of cancer and analyze its statistics, including distribution by type of cancer, gender, age at diagnosis, and survival duration.

Results: A total of 20 genes were evaluated, with 233 variations identified across 148 cases, primarily through substitution (81%). In this study, 4 genes accounted for the majority of instances, with the predominant age range being 70–80 years. The TP53 gene (n = 42,28%) was associated with 15 cases of soft tissue tumors and sarcomas (35%), as well as myomatous, fibromatous neoplasms, and other types. Among the sarcoma cases, there was a higher incidence in males (n = 9,60%), with a 5-year mortality rate of 33%. Similarly, the MUC16 gene (n = 20,13.5%) was linked to 5 cases of soft tissue tumors and sarcomas (25%), with a predominance in females (n = 3, 60%) and a 5-year mortality rate of 40%. In this context, the ATRX gene (n = 20,13.5%) was associated with 9 cases of soft tissue tumors and sarcomas (45%), mostly in females (n = 7,77%), with a 5-year mortality rate of 33%. Lastly, the RB1 gene (n = 18,12%) was associated with 3 cases of soft tissue tumors and sarcomas (16%), predominantly in females (n = 2,66%), with a 5-year mortality rate of 33%.

Conclusion: The prognosis, expressed as 5-year mortality, was similar among the 4 genes highlighted in this study. Additionally, regarding sex predominance, only the TP53 gene had mutations that were more prevalent in men.

Corresponding author: Giulia Di Credico Paranhos (e-mail: [e-mail]).