@article{55ebd07b7a624bfd9ae8d853886998cc,
title = "Description of longitudinal tumor evolution in a case of multiply relapsed clear cell sarcoma of the kidney",
abstract = "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.",
keywords = "BCOR-ITD, clear cell sarcoma of the kidney, clonal evolution, relapse",
author = "Tomoki Yaguchi and Shunsuke Kimura and Masahiro Sekiguchi and Yasuo Kubota and Masafumi Seki and Kenichi Yoshida and Yuichi Shiraishi and Keisuke Kataoka and Yoichi Fujii and Kentaro Watanabe and Mitsuteru Hiwatari and Satoru Miyano and Seishi Ogawa and Junko Takita",
note = "Funding Information: The authors would like to thank Ms M. Matsumura, Ms K. Yin, and Ms F. Saito (The University of Tokyo) for their technical assistance. This work was supported by Grants‐in‐Aid for Scientific Research from the Japan Society for the Promotion of Science (KAKENHI; Grant Nos. JP17H04224, JP18K19467, and JP20H00528 to Junko Takita and JP26221308 and JP19H05656 to Seishi Ogawa); Project for Cancer Research and Therapeutic Evolution (P‐CREATE; Grant No. JP19cm0106509h9904 to Junko Takita), Project for Development of Innovative Research on Cancer Therapeutics (P‐DIRECT; Grant No. JP20cm0106501h0005 to Seishi Ogawa), and Practical Research for Innovative Cancer Control (Grant No. JP19ck0106468h0001 to Junko Takita) from Japan Agency for Medical Research and Development (AMED); Princess Takamatsu Cancer Research Fund (Grant to Junko Takita). Funding Information: Japan Agency for Medical Research and Development, Grant/Award Numbers: JP19ck0106468h0001, JP19cm0106509h9904, JP20cm0106501h0005; Japan Society for the Promotion of Science, Grant/Award Numbers: JP17H04224, JP18K19467, JP19H05656, JP20H00528, JP26221308; Princess Takamatsu Cancer Research Fund Funding information Publisher Copyright: {\textcopyright} 2021 The Authors. Cancer Reports published by Wiley Periodicals LLC.",
year = "2022",
month = feb,
doi = "10.1002/cnr2.1458",
language = "English",
volume = "5",
journal = "Cancer Reports",
issn = "2573-8348",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "2",
}
