Analysis of real-world data from the C-CAT database: Molecular alterations in pediatric patients with solid tumors

DOI
  • Tao Kayoko
    Department of Pediatric Oncology, National Cancer Center Hospital Department of Clinical Genomics, National Cancer Center Research Institute
  • Tanimura Kazuki
    Department of Pediatric Oncology, National Cancer Center Hospital
  • Nakajima Miho
    Department of Pediatric Oncology, National Cancer Center Hospital
  • Arakawa Ayumu
    Department of Pediatric Oncology, National Cancer Center Hospital
  • Sunami Kuniko
    Department of Laboratory Medicine, National Cancer Center Hospital
  • Koyama Takafumi
    Department of Experimental Therapeutics, National Cancer Center Hospital
  • Kohsaka Shinji
    Division of Cellular Signaling, National Cancer Center Research Institute
  • Yamamoto Noboru
    Department of Experimental Therapeutics, National Cancer Center Hospital
  • Ogawa Chitose
    Department of Pediatric Oncology, National Cancer Center Hospital

Bibliographic Information

Other Title
  • C-CATリアルワールドデータの解析：小児固形腫瘍における分子異常

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Description

<p>Background: The Center for Cancer Genomics and Advanced Therapeutics (C-CAT) has been aggregating cancer genome data from comprehensive genome profiling (CGP) testing since June 2019. This optimized database provides evidence-based variant interpretations and options for targeted therapies directed to the Japanese populace. Herein, we summarize the molecular alterations in pediatric patients with solid tumors. Methods: Using the C-CAT data utilization portal site, we extracted variant information from patients aged 0–15 years, who underwent CGP testing from June 1, 2019, to April 4, 2022. Results: The data from 687 patients (288 patients with CNS tumors and 399 patients with non-CNS tumors) were available, including 467 (68%) patients with at least one germline or somatic aberrations with level F and above evidence in the C-CAT report. The most frequent genomic alterations included single nucleotide variants and insertions/deletions (in TP53, BRAF, H3F3A, PIK3CA, CTNNB1, and NF1), amplifications (in MYCN, MYC, ERBB2, CDK4, and PDGFRA), and partial or whole gene loss (in CDKN2A, CDKN2B, SMARCB1, ATRX, RB1, and PTEN). In all, 68 (10%) patients harbored a fusion gene involving EWSR1, BRAF, ALK, CIC, NTRK1, NTRK3, FGFR3, and so on. Five patients had high tumor mutation burden (≥10 mutations/Mb). Discussion: These results represent the heterogeneous mutational landscape in pediatric cancers and illustrate the importance of identifying and generating evidence for applying genomic results to the clinical care of patients.</p>

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Details 詳細情報について

  • CRID
    1390862334389796352
  • DOI
    10.11412/jspho.60.356
  • ISSN
    21895384
    2187011X
  • Text Lang
    ja
  • Data Source
    • JaLC
  • Abstract License Flag
    Disallowed

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