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Sungwon Jung 1 Article
Malignant disease,Colorectal cancer,Benign diesease & IBD,Biomarker & risk factor
Molecular characterization of dysplasia-initiated colorectal cancer with assessing matched tumor and dysplasia samples
Sungwon Jung, Jong Lyul Lee, Tae Won Kim, Jongmin Lee, Yong Sik Yoon, Kil Yeon Lee, Ki-hwan Song, Chang Sik Yu, Yong Beom Cho
Ann Coloproctol. 2022;38(1):72-81.   Published online November 17, 2021
DOI: https://doi.org/10.3393/ac.2021.00290.0041
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  • 2 Web of Science
  • 2 Citations
AbstractAbstract PDF
Purpose
Ulcerative colitis (UC) is known to have an association with the increased risk of colorectal cancer (CRC), and UC-associated CRC does not follow the typical progress pattern of adenoma-carcinoma. The aim of this study is to investigate molecular characteristics of UC-associated CRC and further our understanding of the association between UC and CRC.
Methods
From 5 patients with UC-associated CRC, matched normal, dysplasia, and tumor specimens were obtained from formalin-fixed paraffin-embedded (FFPE) samples for analysis. Genomic DNA was extracted and whole exome sequencing was conducted to identify somatic variations in dysplasia and tumor samples. Statistical analysis was performed to identify somatic variations with significantly higher frequencies in dysplasia-initiated tumors, and their relevant functions were investigated.
Results
Total of 104 tumor mutation genes were identified with higher mutation frequencies in dysplasia-initiated tumors. Four of the 5 dysplasia-initiated tumors (80.0%) have TP53 mutations with frequent stop-gain mutations that were originated from matched dysplasia. APC and KRAS are known to be frequently mutated in general CRC, while none of the 5 patients have APC or KRAS mutation in their dysplasia and tumor samples. Glycoproteins including mucins were also frequently mutated in dysplasia-initiated tumors.
Conclusion
UC-associated CRC tumors have distinct mutational characteristics compared to typical adenoma-carcinoma tumors and may have different cancer-driving molecular mechanisms that are initiated from earlier dysplasia status.

Citations

Citations to this article as recorded by  
  • Impact of Postoperative Naples Prognostic Score to Predict Survival in Patients with Stage II–III Colorectal Cancer
    Su Hyeong Park, Hye Seung Woo, In Kyung Hong, Eun Jung Park
    Cancers.2023; 15(20): 5098.     CrossRef
  • Cytoreductive surgery plus hyperthermic intraperitoneal chemotherapy versus R0 resection for resectable colorectal cancer with peritoneal metastases and low peritoneal cancer index scores: A collaborative observational study from Korea and Japan
    Daichi Kitaguchi, Eun Jung Park, Seung Hyuk Baik, Shoma Sasaki, Yuichiro Tsukada, Masaaki Ito
    International Journal of Surgery.2023;[Epub]     CrossRef

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