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Article Open Access

Comprehensive genetic profiling using tissue and blood in locally advanced tumors

  • Authors:
    • Kenji Fujiyoshi
    • Rie Sugihara
    • Naoki Miyamoto
    • Yoriko Watanabe
    • Tomoya Sudo
    • Sanae Numata
    • Jun Akiba
    • Hideyuki Abe
    • Yuka Ichinose
    • Kenji Inoue
    • Shuichi Ozono
    • Takeharu Ono
    • Kentaro Orioka
    • Masaki Kashihara
    • Ryousuke Kajiwara
    • Hiroyuki Kawano
    • Akihiko Kawahara
    • Ryuta Takase
    • Uhi Toh
    • Kazuaki Hashimoto
    • Toru Hisaka
    • Shingo Hirai
    • Masahiro Mitsuoka
    • Daiki Miyazaki
    • Fumi Yoshitomi
    • Ken Yamamoto
    • Hirohito Umeno
    • Masahisa Nomura
    • Yoshiki Naito
  • View Affiliations / Copyright

    Affiliations: Department of Surgery, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan, Department of Clinical Laboratory Medicine, Kurume University Hospital, Kurume, Fukuoka 8300011, Japan, Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan, Cancer Center, Kurume University Hospital, Kurume, Fukuoka 8300011, Japan, Department of Diagnostic Pathology, Kurume University Hospital, Kurume, Fukuoka 8300011, Japan, Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan, Department of Otolaryngology‑Head and Neck Surgery, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan, Division of Gastroenterology, Department of Internal Medicine, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan, Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan, Division of Endocrinology and Metabolism, Department of Internal Medicine, Kurume University School of Medicine, Kurume, Fukuoka 8300011, Japan
    Copyright: © Fujiyoshi et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 134
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    Published online on: August 5, 2025
       https://doi.org/10.3892/or.2025.8967
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Abstract

Comprehensive genomic profiling (CGP) aims to assist clinicians with the diagnosis, treatment decisions and early detection of recurrence in patients with cancer. CGP using tumor tissue is widely implemented, whereas circulating tumor DNA (ctDNA) analysis is a noninvasive method that uses peripheral blood. This pilot study included eight patients with locally advanced tumors (two each of breast, lung, pancreatic, and head and neck cancers). The concordance of somatic variants with tumor tissues and paired ctDNA from pre‑ and post‑resection samples was evaluated. This study demonstrated that the overall concordance rate in all genes between tissue and postoperative blood was high (94.2%), but the concordance rate in genes with somatic variants was low (4.76%). In patient 8 with head and neck cancer, the MAP2K1 variant was concordant between the tissue and blood after surgery. The patient was found to have a small lung tumor at 10 months after surgery, indicating recurrence in the lung. In patient 6 with pancreas cancer, the TP53 variant was concordant between the blood before and after surgery, but no recurrence was observed. In patient 5 with pancreas cancer, recurrence was identified; however, the somatic variants were not concordant between the tissue and blood. Furthermore, a case, such as patient 8, of recurrence with somatic variants matching the tissue and postoperative blood was encountered, suggesting that detecting a somatic variant in postoperative ctDNA matching the same variant in the tissue may predict recurrence. However, since the major limitation of this study was the limited sample size, subsequent studies with larger sample sizes and more extensive research designs are warranted. The study was entered in the Japan Registry of Clinical Trials (April 10, 2023; no. 072230003).
View Figures

Figure 1

Study design and clinical course of
the cases. (A) Blood samples were obtained before surgery and 1 and
2 months after surgery. A tissue sample was obtained during
surgery. All samples were analyzed using Genexus-NGS (OPA for blood
and OCAv3 for tissue samples). (B-D) Clinical information and
somatic variants of (B) patient 5, (C) patient 6 and (D) patient 8.
The CT image on the upper right in B shows the recurrence (yellow
arrows) in the abdomen at nine months postoperatively. M, month(s);
y.o., years old; NGS, next-generation sequencing; ctDNA,
circulating tumor DNA; RT, radiation therapy; Pre ope,
preoperative; OCAv3, Genexus Oncomine Comprehensive Assay v3; OPA,
Genexus Oncomine Precision Assay; TS-1,
tegafur/gimeracil/oteracil.
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Copy and paste a formatted citation
Spandidos Publications style
Fujiyoshi K, Sugihara R, Miyamoto N, Watanabe Y, Sudo T, Numata S, Akiba J, Abe H, Ichinose Y, Inoue K, Inoue K, et al: Comprehensive genetic profiling using tissue and blood in locally advanced tumors. Oncol Rep 54: 134, 2025.
APA
Fujiyoshi, K., Sugihara, R., Miyamoto, N., Watanabe, Y., Sudo, T., Numata, S. ... Naito, Y. (2025). Comprehensive genetic profiling using tissue and blood in locally advanced tumors. Oncology Reports, 54, 134. https://doi.org/10.3892/or.2025.8967
MLA
Fujiyoshi, K., Sugihara, R., Miyamoto, N., Watanabe, Y., Sudo, T., Numata, S., Akiba, J., Abe, H., Ichinose, Y., Inoue, K., Ozono, S., Ono, T., Orioka, K., Kashihara, M., Kajiwara, R., Kawano, H., Kawahara, A., Takase, R., Toh, U., Hashimoto, K., Hisaka, T., Hirai, S., Mitsuoka, M., Miyazaki, D., Yoshitomi, F., Yamamoto, K., Umeno, H., Nomura, M., Naito, Y."Comprehensive genetic profiling using tissue and blood in locally advanced tumors". Oncology Reports 54.4 (2025): 134.
Chicago
Fujiyoshi, K., Sugihara, R., Miyamoto, N., Watanabe, Y., Sudo, T., Numata, S., Akiba, J., Abe, H., Ichinose, Y., Inoue, K., Ozono, S., Ono, T., Orioka, K., Kashihara, M., Kajiwara, R., Kawano, H., Kawahara, A., Takase, R., Toh, U., Hashimoto, K., Hisaka, T., Hirai, S., Mitsuoka, M., Miyazaki, D., Yoshitomi, F., Yamamoto, K., Umeno, H., Nomura, M., Naito, Y."Comprehensive genetic profiling using tissue and blood in locally advanced tumors". Oncology Reports 54, no. 4 (2025): 134. https://doi.org/10.3892/or.2025.8967
Copy and paste a formatted citation
x
Spandidos Publications style
Fujiyoshi K, Sugihara R, Miyamoto N, Watanabe Y, Sudo T, Numata S, Akiba J, Abe H, Ichinose Y, Inoue K, Inoue K, et al: Comprehensive genetic profiling using tissue and blood in locally advanced tumors. Oncol Rep 54: 134, 2025.
APA
Fujiyoshi, K., Sugihara, R., Miyamoto, N., Watanabe, Y., Sudo, T., Numata, S. ... Naito, Y. (2025). Comprehensive genetic profiling using tissue and blood in locally advanced tumors. Oncology Reports, 54, 134. https://doi.org/10.3892/or.2025.8967
MLA
Fujiyoshi, K., Sugihara, R., Miyamoto, N., Watanabe, Y., Sudo, T., Numata, S., Akiba, J., Abe, H., Ichinose, Y., Inoue, K., Ozono, S., Ono, T., Orioka, K., Kashihara, M., Kajiwara, R., Kawano, H., Kawahara, A., Takase, R., Toh, U., Hashimoto, K., Hisaka, T., Hirai, S., Mitsuoka, M., Miyazaki, D., Yoshitomi, F., Yamamoto, K., Umeno, H., Nomura, M., Naito, Y."Comprehensive genetic profiling using tissue and blood in locally advanced tumors". Oncology Reports 54.4 (2025): 134.
Chicago
Fujiyoshi, K., Sugihara, R., Miyamoto, N., Watanabe, Y., Sudo, T., Numata, S., Akiba, J., Abe, H., Ichinose, Y., Inoue, K., Ozono, S., Ono, T., Orioka, K., Kashihara, M., Kajiwara, R., Kawano, H., Kawahara, A., Takase, R., Toh, U., Hashimoto, K., Hisaka, T., Hirai, S., Mitsuoka, M., Miyazaki, D., Yoshitomi, F., Yamamoto, K., Umeno, H., Nomura, M., Naito, Y."Comprehensive genetic profiling using tissue and blood in locally advanced tumors". Oncology Reports 54, no. 4 (2025): 134. https://doi.org/10.3892/or.2025.8967
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