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Article

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy

by
You-Kang Chang
1,2,†,
Hui-Hwa Tseng
3,†,
Chung-Man Leung
4,
Kuo-Cheng Lu
5,6 and
Kuo-Wang Tsai
7,*
1
Department of Radiation Oncology, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taipei 23142, Taiwan
2
College of Medicine, Tzu Chi University, Hualien City 97004, Taiwan
3
Department of Anatomic Pathology, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 97004, Taiwan
4
Department of Radiation Oncology, Kaohsiung Veterans General Hospital, Kaohsiung 81341, Taiwan
5
Division of Nephrology, Department of Medicine, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 97004, Taiwan
6
Division of Nephrology, Department of Medicine, Fu-Jen Catholic University Hospital, School of Medicine, Fu-Jen Catholic University, New Taipei City 24205, Taiwan
7
Department of Research, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei City 23142, Taiwan
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Mol. Sci. 2022, 23(18), 10353; https://doi.org/10.3390/ijms231810353
Submission received: 26 August 2022 / Accepted: 30 August 2022 / Published: 8 September 2022
(This article belongs to the Special Issue Genetic Alterations in Tumors)
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Abstract

This study investigated whether oncogenic and tumor-suppressive gene mutations are involved in the differential outcomes of patients with rectal carcinoma receiving neoadjuvant chemoradiotherapy (nCRT). Genomic DNA was obtained from formalin-fixed paraffin-embedded (FFPE) specimens of patients with rectal carcinoma who received a complete nCRT course. Gene mutation status was examined in specimens from patients before and after nCRT by using the AmpliSeq platform. Our data revealed that the nonsynonymous p53, APC, KRAS, CDKN2A, and EGFR mutations were observed in 93.1%, 65.5%, 48.6%, and 31% of the patients with rectal adenocarcinoma, respectively. BRAF, FBXW7, PTEN, and SMAD4 mutations were observed in 20.7% of patients with rectal carcinoma. The following 12 gene mutations were observed more frequently in the patients exhibiting a complete response than in those demonstrating a poor response before nCRT: ATM, BRAF, CDKN2A, EGFR, FLT3, GNA11, KDR, KIT, PIK3CA, PTEN, PTPN11, SMAD4, and TP53. In addition, APC, BRAF, FBXW7, KRAS, SMAD4, and TP53 mutations were retained after nCRT. Our results indicate a complex mutational profile in rectal carcinoma, suggesting the involvement of BRAF, SMAD4, and TP53 genetic variants in the outcomes of patients with nCRT.
Keywords: rectal carcinoma; cancer panel; next-generation sequencing; chemoradiotherapy rectal carcinoma; cancer panel; next-generation sequencing; chemoradiotherapy

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MDPI and ACS Style

Chang, Y.-K.; Tseng, H.-H.; Leung, C.-M.; Lu, K.-C.; Tsai, K.-W. Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy. Int. J. Mol. Sci. 2022, 23, 10353. https://doi.org/10.3390/ijms231810353

AMA Style

Chang Y-K, Tseng H-H, Leung C-M, Lu K-C, Tsai K-W. Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy. International Journal of Molecular Sciences. 2022; 23(18):10353. https://doi.org/10.3390/ijms231810353

Chicago/Turabian Style

Chang, You-Kang, Hui-Hwa Tseng, Chung-Man Leung, Kuo-Cheng Lu, and Kuo-Wang Tsai. 2022. "Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy" International Journal of Molecular Sciences 23, no. 18: 10353. https://doi.org/10.3390/ijms231810353

APA Style

Chang, Y.-K., Tseng, H.-H., Leung, C.-M., Lu, K.-C., & Tsai, K.-W. (2022). Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy. International Journal of Molecular Sciences, 23(18), 10353. https://doi.org/10.3390/ijms231810353

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