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Sharing the initial experience of pan-cancer panel analysis in high-risk renal cell carcinoma in the Korean population

  • Suh, Jungyo1, 2
  • Jeong, Chang Wook1
  • Choi, Seongmin1
  • Ku, Ja Hyeon1
  • Kim, Hyeon Hoe1
  • Kim, Kwangsoo2
  • Kwak, Cheol1
  • 1 Seoul National University College of Medicine, Seoul, South Korea , Seoul (South Korea)
  • 2 Seoul National University Hospital, Seoul, South Korea , Seoul (South Korea)
Published Article
BMC Urology
Springer (Biomed Central Ltd.)
Publication Date
Aug 18, 2020
DOI: 10.1186/s12894-020-00687-2
Springer Nature


BackgroundThis study aimed to assess the feasibility of a pan-cancer panel assay for high-risk renal cell carcinoma (RCC) in the Korean population. We also analyzed the clinical and genetic factors contributing to metastasis in clear cell RCC.MethodsThirty-one patients with advanced RCC who underwent radical nephrectomy were analyzed. A 1.8 Mb multi-cancer panel (including 25 RCC-related genes, such as VHL, PBRM1, SETD2, and MET), comprising 181 target genes, 23 fusion genes, and 45 drug target lesions developed by Seoul National University Hospital, was used for this study.ResultsWe extracted DNA from 30 of the 31 (96.7%) RCC specimens. Twenty-one patients (average age 63.3 ± 11.3 years) with clear cell RCC, 5 with papillary RCC, 3 with chromophobe RCC, and one patient, each with MiT family translocation carcinoma RCC and succinate dehydrogenase deficiency RCC, were analyzed. The sequencing depth was 430.8 ± 206.6 and 97 mutations (7.3 ± 2.7 mutations per patient) were detected. The most commonly mutated genes were VHL (46%), PBRM1 (30%), and BAP1, NOTCH4, and POLQ (23.33% each). Compared with TNM stage matched data from TCGA of clear cell RCC, VHL and PBRM1 are most common in both cohorts. Univariate and multivariate analyses revealed that tumor size (Hazard ratio = 2.47, p = 0.04) and PBRM1 (Hazard ratio = 28.69, p = 0.05) were related to metastasis in clear cell RCC.ConclusionThe pan-cancer panel comprised of RCC-related genes is a feasible and promising tool to evaluate genetic alterations in advanced RCC. However, large-scale studies and a focus on the clinical utility of this cancer panels is needed.

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