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Authors
Makutani, Yusuke https://orcid.org/0000-0002-5912-4054
Iwamoto, Masayoshi
Daito, Koji
Tokoro, Tadao
Ueda, Kazuki
Kawamura, Junichiro
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Funding
Funding for this research was provided by:
Japan Agency for Medical Research and Development (JP22ck0106689, JP22ck0106871)
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Article History
Received: 19 December 2024
Accepted: 12 June 2025
First Online: 30 June 2025
Declarations
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: The authors declare that they have no conflicts of interest.
: This study was approved by the Institutional Review Board (IRB) of Kindai University Faculty of Medicine on June 25, 2019 (IRB approval number 31-059). This study was conducted in accordance with the principles of the Declaration of Helsinki and CARE reporting guidelines.
: Due to the retrospective nature of this study, written informed consent was not obtained. An opt-out approach was used to disclose study information.
: #Case 1The targeted next‐generation sequencing (NGS) and copy number variation (CNV) analysis was performed to detect mutations using the Ion S5 platform (Thermo Fisher Scientific, based on Ion Torrent technology). In addition, Sanger sequencing was conducted to confirm and supplement the NGS findings, particularly for variants of uncertain significance.#Case 2Whole-genome sequencing for mutation analysis from Illumina, Inc was performed. For detecting gene mutations, the DRAGEN Somatic Whole Genome 4-0-3 pipeline for somatic mutation detection and the DRAGEN Germline Whole Genome 4-0-3 pipeline for germline mutation analysis were utilized.
