Whole-exome sequencing of clear cell sarcoma of human salivary gland. Homo sapiens

Clear cell sarcoma (CCS) is a rare low-grade carcinoma that almost exclusively occurs in the minor salivary glands. CCS is characterized by its poor prognosis due to late diagnosis, multiple local recurrences, propensity to late metastases and a high rate of tumor deaths. The genetic cause for CCS is thought to be its defining gene translocation. However, CCS without a translocation may have other, currently unknown, genetic mutations causing the same effect. The purpose of this study was to investigate the causal genetic variants of CCS.