Introduction: Sarcomas known as a fatal tumor broadcasting in tissues such as bone or muscles. soft tissue sarcomas (STSs) and malignant bone tumors (MBTs) are responsible for almost 12% and 6% of all types, respectively. Given the insidious onset, younger age at presentation and atypical presenting symptoms, these patients may be initially clinically misdiagnosed with benign processes including myositis, synovitis, bursitis or tendonitis. Sarcomas are infrequent and diverse malignant tumors, accounting for less than 1% of all adult malignancies and 12% of pediatric cancers. Among different types of sarcomas, primary sarcoma of the thorax, is one of the least-known sarcomas, likely due to difficulties in diagnosis of this malignancy.
Methods: In this study, we used the National Center for Biotechnology Information (NCBI)
database to identify prevalent single-nucleotide polymorphisms (SNPs)
associated with sarcoma, focusing on two factors, citation frequency and
population prevalence.
we collected information on pharmacological treatment related to sarcoma including comprehensive assessment of their associated side effects. Subsequently, we used Mega Gene software, a tool widely used in pharmacogenomics to analyze and evaluated the compiled data.
Results: In this study, we found that EWSR1 and SDHD genes cause the genetic occurrence of sarcoma disease with the percentage of genetic impact based on the probability of occurrence in the studied statistical communities of 47.82% and 52.17%, respectively. In these genes, 11 SNPs in the EWSR1 gene and 12 SNPs in the SDHD gene were identified as common SNPs involved in the occurrence of sarcoma disease, which were selected based on the two factors CITATION and POULATION. Also, in this study, the relationship between the side effects of the drugs used and the phenotypes of single nucleotide polymorphisms in the human genome was investigated, and it was found that CISPLATIN, manufactured by MYLAN, had an effect on the SNP, Rs 1421085, on the FTO gene and caused genetic events. HAIR LOSS phenotype in patients who used it.
Conclusion: we found that phenotypes such as breast cancer or colorectal cancer may appear with sarcoma cancer in patients with found SNPs pointed in this article and also found side effects of drugs used to treat sarcoma such as hair loss, insomnia, hearing loss may have genetics background.
Before prescribing any drug for chemotherapy to people with sarcoma, oncologists should conduct tests for them so that they can prescribe and use the most appropriate and effective drug with the least side effects based on the genetic profile of each person.