Genetic basis of progression and relapse in Clear Cell Sarcoma of the Kidney
2020
To elucidate the genetic mechanisms of recurrence and metastasis in clear cell sarcoma of the kidney (CCSK), a dismal pediatric renal cancer, we performed targeted-capture sequencing by pediatric solid tumors panel (381 genes) for multi-sampled tumors including autopsy samples of metastasis extracted from a single case that underwent four relapses. Internal tandem duplication of BCOR (BCOR-ITD) was the only truncal mutation, indicating a strong association with tumorigenesis. Acquisition of additional mutations along tumor relapses and detection of metastasis-specific mutations were reminiscent of the tumor progression and therapeutic resistance of this case, leading to clonal selection and a dismal fate.
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