Preoperative diagnosis of clear cell sarcoma of the kidney by detection of BCOR internal tandem duplication in circulating tumor DNA

Hitomi Ueno-Yokohata, Hajime Okita, Keiko Nakasato, Tomoro Hishiki, Ryota Shirai, Shinichi Tsujimoto, Tomoo Osumi, Satoshi Yoshimura, Yuji Yamada, Yoko Shioda, Chikako Kiyotani, Keita Terashima, Osamu Miyazaki, Kimikazu Matsumoto, Nobutaka Kiyokawa, Takako Yoshioka, Motohiro Kato

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


Clear cell sarcoma of the kidney (CCSK) is the second most common renal malignancy in children. The prognosis is poorer in CCSK than in Wilms’ tumor, and multimodal treatment including surgery, intensive chemotherapy, and radiation is required to improve the outcome for children with CCSK. Histological evaluation is required for the diagnosis. However, biopsies of tumors to obtain diagnostic specimens are not routinely performed because of the risk of spreading tumor cells during the procedure. Recently, internal tandem duplication (ITD) of BCOR has been recognized as a genetic hallmark of CCSK. We herein established a novel BCOR-ITD-specific polymerase chain reaction method with well-designed primers, and then performed a liquid biopsy for cell-free DNA (cfDNA) obtained from plasma of three children with nonmetastatic renal tumors (stage II) and from one control. BCOR-ITD was positively detected in the cfDNA of two cases, both of which were later diagnosed as CCSK based on histological feature of the resected tumor specimen, while it was not detected for a normal control and a patient diagnosed with Wilms’ tumor. Our study is the first one of preoperative circulating tumor DNA assay in pediatric renal tumors. The liquid biopsy method enables less invasive, preoperative diagnosis of CCSK with no risk of tumor spillage, which can avoid iatrogenic upstaging.

Original languageEnglish
Pages (from-to)525-529
Number of pages5
JournalGenes Chromosomes and Cancer
Issue number10
Publication statusPublished - 2018 Oct


  • BCOR
  • clear cell sarcoma of the kidney
  • kidney neoplasms
  • liquid biopsy

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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