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A Syngeneic Mouse Model of Metastatic Renal Cell Carcinoma for Quantitative and Longitudinal Assessment of Preclinical Therapies
Published on: April 12, 2017
Description of longitudinal tumor evolution in a case of multiply relapsed clear cell sarcoma of the kidney
Tomoki Yaguchi1, Shunsuke Kimura1,2, Masahiro Sekiguchi1
1Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Background:
Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal tumor.
Case:
A 2-year-old boy was diagnosed with CCSK, which relapsed four times until he yielded to the disease at the age of 7 years. To characterize the longitudinal genetic alterations occurring in the present case, we performed targeted-capture sequencing by pediatric solid tumors panel (381 genes) for longitudinally sampled tumors, including autopsy samples of metastasis. Internal tandem duplication of BCOR (BCOR-ITD) was the only truncal mutation, confirming the previously reported role of BCOR-ITD in CCSK.
Conclusion:
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.
Insights
Clear cell sarcoma of the kidney (CCSK) is a rare pediatric cancer. Genetic analysis revealed BCOR-ITD as a key mutation driving tumor progression and resistance in a patient with relapsed CCSK.
Area of Science:
- Pediatric Oncology
- Cancer Genomics
- Molecular Pathology
Background:
- Clear cell sarcoma of the kidney (CCSK) represents the second most frequent renal tumor in children.
- CCSK is characterized by aggressive behavior and a high propensity for relapse and metastasis.
Observation:
- A case study of a 2-year-old boy diagnosed with CCSK who experienced four relapses before succumbing to the disease at age 7.
- Longitudinal tumor samples, including autopsy samples of metastasis, were subjected to targeted-capture sequencing.
- Internal tandem duplication of BCOR (BCOR-ITD) was identified as the sole truncal mutation across all sampled tumors.
Findings:
- The study confirmed the established role of BCOR-ITD in CCSK pathogenesis.
- Acquisition of additional genetic mutations during tumor relapses and metastasis-specific mutations were observed.
- These genetic changes reflect tumor evolution, therapeutic resistance, and clonal selection.
Implications:
- Understanding the genetic landscape of relapsed CCSK is crucial for developing targeted therapies.
- Longitudinal genomic profiling can elucidate mechanisms of tumor progression and treatment failure in pediatric cancers.
- This case highlights the challenges in managing aggressive pediatric renal tumors and the need for novel therapeutic strategies.
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