Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts
Abstract Anal squamous cell carcinoma (ASCC) is a rare tumor of the gastrointestinal tract. We aimed to compare the genetic backgrounds and their effect on clinical outcomes between Japanese and Caucasian patients with ASCC. Forty-one patients diagnosed with ASCC at the National Cancer Center Hospit...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
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Nature Portfolio
2023-03-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-30624-w |
| _version_ | 1797864690476384256 |
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| author | Takahiko Ito Daisuke Takayanagi Shigeki Sekine Taiki Hashimoto Yoko Shimada Maiko Matsuda Masayoshi Yamada Ryuji Hamamoto Tomoyasu Kato Dai Shida Yukihide Kanemitsu Narikazu Boku Takashi Kohno Atsuo Takashima Kouya Shiraishi |
| author_facet | Takahiko Ito Daisuke Takayanagi Shigeki Sekine Taiki Hashimoto Yoko Shimada Maiko Matsuda Masayoshi Yamada Ryuji Hamamoto Tomoyasu Kato Dai Shida Yukihide Kanemitsu Narikazu Boku Takashi Kohno Atsuo Takashima Kouya Shiraishi |
| author_sort | Takahiko Ito |
| collection | DOAJ |
| description | Abstract Anal squamous cell carcinoma (ASCC) is a rare tumor of the gastrointestinal tract. We aimed to compare the genetic backgrounds and their effect on clinical outcomes between Japanese and Caucasian patients with ASCC. Forty-one patients diagnosed with ASCC at the National Cancer Center Hospital were enrolled and evaluated for clinicopathological features, human papillomavirus (HPV) infection, HPV genotypes, p16 expression, PD-L1, and association of p16 status with the efficacy of concurrent chemoradiotherapy (CCRT). Target sequencing for hotspot mutations in 50 cancer-related genes was performed using genomic DNA from 30 available samples. Of 41 patients, 34 were HPV-positive (among them, HPV 16 was predominant; 73.2%); 38 patients were p16-positive (92.7%); and 39 patients received CCRT, of whom 36 were p16-positive and three p16-negative. p16-positive patients showed better complete response than p16-negative patients. Among 28 samples, 15 showed mutations in PIK3CA, FBXW7, ABL1, TP53, and PTEN; no difference in mutation profiles between the Japanese and Caucasian cohorts was observed. Actionable mutations were detected in both Japanese and Caucasian patients with ASCC. Genetic backgrounds, such as the HPV 16 genotype and PIK3CA mutations, were common regardless of ethnicity. p16 status may be a prognostic biomarker for CCRT in Japanese patients with ASCC. |
| first_indexed | 2024-04-09T22:57:13Z |
| format | Article |
| id | doaj.art-5c62401519fd4daea4e73cec0c6d0bf9 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-09T22:57:13Z |
| publishDate | 2023-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-5c62401519fd4daea4e73cec0c6d0bf92023-03-22T11:12:19ZengNature PortfolioScientific Reports2045-23222023-03-011311910.1038/s41598-023-30624-wComparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohortsTakahiko Ito0Daisuke Takayanagi1Shigeki Sekine2Taiki Hashimoto3Yoko Shimada4Maiko Matsuda5Masayoshi Yamada6Ryuji Hamamoto7Tomoyasu Kato8Dai Shida9Yukihide Kanemitsu10Narikazu Boku11Takashi Kohno12Atsuo Takashima13Kouya Shiraishi14Department of Gastrointestinal Medical Oncology, National Cancer Center HospitalDivision of Genome Biology, National Cancer Center Research InstituteDepartment of Clinical Pathology, National Cancer Center HospitalDepartment of Clinical Pathology, National Cancer Center HospitalDivision of Genome Biology, National Cancer Center Research InstituteDivision of Genome Biology, National Cancer Center Research InstituteEndoscopy Division, National Cancer Center HospitalDivision of Molecular Modification and Cancer Biology, National Cancer Center Research InstituteDepartment of Gynecology, National Cancer Center HospitalDepartment of Colorectal Surgery, National Cancer Center HospitalDepartment of Colorectal Surgery, National Cancer Center HospitalDepartment of Gastrointestinal Medical Oncology, National Cancer Center HospitalDivision of Genome Biology, National Cancer Center Research InstituteDepartment of Gastrointestinal Medical Oncology, National Cancer Center HospitalDivision of Genome Biology, National Cancer Center Research InstituteAbstract Anal squamous cell carcinoma (ASCC) is a rare tumor of the gastrointestinal tract. We aimed to compare the genetic backgrounds and their effect on clinical outcomes between Japanese and Caucasian patients with ASCC. Forty-one patients diagnosed with ASCC at the National Cancer Center Hospital were enrolled and evaluated for clinicopathological features, human papillomavirus (HPV) infection, HPV genotypes, p16 expression, PD-L1, and association of p16 status with the efficacy of concurrent chemoradiotherapy (CCRT). Target sequencing for hotspot mutations in 50 cancer-related genes was performed using genomic DNA from 30 available samples. Of 41 patients, 34 were HPV-positive (among them, HPV 16 was predominant; 73.2%); 38 patients were p16-positive (92.7%); and 39 patients received CCRT, of whom 36 were p16-positive and three p16-negative. p16-positive patients showed better complete response than p16-negative patients. Among 28 samples, 15 showed mutations in PIK3CA, FBXW7, ABL1, TP53, and PTEN; no difference in mutation profiles between the Japanese and Caucasian cohorts was observed. Actionable mutations were detected in both Japanese and Caucasian patients with ASCC. Genetic backgrounds, such as the HPV 16 genotype and PIK3CA mutations, were common regardless of ethnicity. p16 status may be a prognostic biomarker for CCRT in Japanese patients with ASCC.https://doi.org/10.1038/s41598-023-30624-w |
| spellingShingle | Takahiko Ito Daisuke Takayanagi Shigeki Sekine Taiki Hashimoto Yoko Shimada Maiko Matsuda Masayoshi Yamada Ryuji Hamamoto Tomoyasu Kato Dai Shida Yukihide Kanemitsu Narikazu Boku Takashi Kohno Atsuo Takashima Kouya Shiraishi Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts Scientific Reports |
| title | Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts |
| title_full | Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts |
| title_fullStr | Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts |
| title_full_unstemmed | Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts |
| title_short | Comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between Japanese and Caucasian cohorts |
| title_sort | comparison of clinicopathological and genomic profiles in anal squamous cell carcinoma between japanese and caucasian cohorts |
| url | https://doi.org/10.1038/s41598-023-30624-w |
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