Malignant tumors derived from mesenchymal tissue (including connective tissue and muscle) are called "sarcomas". Sarcoma accounts for 12.6% of all malignant tumors in children and adolescents under 19 years of age but is rare in adults. Sarcoma is divided into two categories, soft tissue sarcomas which occupies the majority of sarcoma and malignant primary bone tumors which occupies approximately 10%. The clinical manifestation of sarcoma includes local pain and swelling, or local skin redness, heat, joint effusion, limb or joint activity pain and restriction, etc. The etiology of sarcoma is unknown and the pathogenesis is unclear. However, it has been reported that mutations in some genes are associated with increased risk of sarcoma.
The mutations in TP53, RB1, NF1, SDHA, SDHB, SDHC and SDHD genes are frequently detected in sarcomas. The tumor suppressor gene TP53 is the most common mutated gene in human cancer, which also increases the risk of other cancers such as melanoma, breast cancer and thyroid cancer. In sporadic cancers, the prevalence of TP53 variants in somatic cells is from 10% to 60%. p53 is inactivated due to the missense mutation, thereby destroying a complete set of anti-proliferative and growth-inhibiting responses. The p53 protein mutant has carcinogenic effects and promotes tumor development. RB1, also the tumor suppressor gene, plays a major role in the formation of sarcoma. Significant enrichment of pathogenic variation is reported in ATM and ATR genes which are related to DNA damage-sensing. Germline mutations in mitochondrial complex II succinate dehydrogenase (SDH) enzyme are commonly detected in gastrointestinal stromal tumors. In addition to these genes, the unexpected pathogenic variants in ERCC2 are confirmed, which can affect DNA binding, DNA damage sensing, helices activity and basal transcription.
CD-Genomics provides a custom sarcoma panel containing optimized genes that are reported associated with the increase of risk of sarcoma. You can select the genes only you require to customize your exclusive panel. Targeted DNA sequencing by Illumina MiSeq system/Ion PGM system is provided to investigate the genetic variations for sarcoma seen in routine clinical practice.
For more information about the Custom Sarcoma Panel or need other amplification requirements, please contact us.