Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the 17p12 region including PMP22 gene. In CMT1A patients, anticipation showing increased severity by generations has been reported in the CMT1A patients. It has also been reported that severity increases in the non-de novo cases than in the de novo cases. This study was performed to examine epigenetic differences between CMT1A cases and controls as well as between de novo cases and non-de novo cases. Methods: This study examined 40 Korean CMT1A patients and 11 controls. Methylation level was determined using the SureSelect XT Methyl-Seq reagent kit and bisulfite sequence mapping program. Results: Many differentially methylated CpG sites (DMCs) were identified in the comparisonbetween cases and controls and between de novo cases and non-de novo cases. Most DMCs were located within or nearby genes related to the nervous system, mental stress, and motor ability. Conclusions This study is the first epigenetic study to uncover the mechanism of clinical heterogeneity among CMT1A patients. We suggest that weak severity in the de novo cases than the non-de novo cases may be related to the epigenomic differences in the nerve and stress-related genes.

Purpose: Unnecessary prostate biopsies for detecting prostate cancer (PCa) should be minimized. Therefore, this study developed a machine learning (ML) model to predict PCa in Korean men and evaluated its usability. Materials and Methods: We retrospectively analyzed clinical data from 928 patients who underwent prostate biopsies at Kangwon National University Hospital between May 2013 and May 2023. Of these, 377 (41.6%) were diagnosed with PCa, and 551 (59.4%) did not have cancer. For external validation, clinical data from 385 patients aged 48–89 years who underwent prostate biopsies from September 2005 to September 2023 at Wonju Severance Christian Hospital were also included. Twenty-two clinical features were used to develop an ML model to predict PCa. Features were selected based on their contributions to model performance, leading to the inclusion of 15 features. A meta-learner was constructed using logistic regression to predict the probability of PCa, and the classifier was trained and validated on randomly extracted training and test sets at an 8:2 ratio. Results: The prostate health index, prostate volume, age, nodule on digital rectal examination, and prostate-specific antigen were the top 5 features for predicting PCa. The area under the receiver operating characteristic curve (AUC) of the meta-learner logistic regression model was 0.89, and the accuracy, sensitivity, and specificity were 0.828, 0.711, and 0.909, respectively. Our model also showed excellent prediction performance for high-grade PCa, with a Gleason score of 7 or higher and an AUC of 0.903. Furthermore, we evaluated the performance of the model using external cohort clinical data and achieved an AUC of 0.863. Conclusions Our ML model excelled in predicting PCa, specifically clinically significant PCa. Although extensive cross-validation in other clinical cohorts is needed, this ML model is a promising option for future diagnostics.

Purpose: Unnecessary prostate biopsies for detecting prostate cancer (PCa) should be minimized. Therefore, this study developed a machine learning (ML) model to predict PCa in Korean men and evaluated its usability. Materials and Methods: We retrospectively analyzed clinical data from 928 patients who underwent prostate biopsies at Kangwon National University Hospital between May 2013 and May 2023. Of these, 377 (41.6%) were diagnosed with PCa, and 551 (59.4%) did not have cancer. For external validation, clinical data from 385 patients aged 48–89 years who underwent prostate biopsies from September 2005 to September 2023 at Wonju Severance Christian Hospital were also included. Twenty-two clinical features were used to develop an ML model to predict PCa. Features were selected based on their contributions to model performance, leading to the inclusion of 15 features. A meta-learner was constructed using logistic regression to predict the probability of PCa, and the classifier was trained and validated on randomly extracted training and test sets at an 8:2 ratio. Results: The prostate health index, prostate volume, age, nodule on digital rectal examination, and prostate-specific antigen were the top 5 features for predicting PCa. The area under the receiver operating characteristic curve (AUC) of the meta-learner logistic regression model was 0.89, and the accuracy, sensitivity, and specificity were 0.828, 0.711, and 0.909, respectively. Our model also showed excellent prediction performance for high-grade PCa, with a Gleason score of 7 or higher and an AUC of 0.903. Furthermore, we evaluated the performance of the model using external cohort clinical data and achieved an AUC of 0.863. Conclusions Our ML model excelled in predicting PCa, specifically clinically significant PCa. Although extensive cross-validation in other clinical cohorts is needed, this ML model is a promising option for future diagnostics.

Purpose: Unnecessary prostate biopsies for detecting prostate cancer (PCa) should be minimized. Therefore, this study developed a machine learning (ML) model to predict PCa in Korean men and evaluated its usability. Materials and Methods: We retrospectively analyzed clinical data from 928 patients who underwent prostate biopsies at Kangwon National University Hospital between May 2013 and May 2023. Of these, 377 (41.6%) were diagnosed with PCa, and 551 (59.4%) did not have cancer. For external validation, clinical data from 385 patients aged 48–89 years who underwent prostate biopsies from September 2005 to September 2023 at Wonju Severance Christian Hospital were also included. Twenty-two clinical features were used to develop an ML model to predict PCa. Features were selected based on their contributions to model performance, leading to the inclusion of 15 features. A meta-learner was constructed using logistic regression to predict the probability of PCa, and the classifier was trained and validated on randomly extracted training and test sets at an 8:2 ratio. Results: The prostate health index, prostate volume, age, nodule on digital rectal examination, and prostate-specific antigen were the top 5 features for predicting PCa. The area under the receiver operating characteristic curve (AUC) of the meta-learner logistic regression model was 0.89, and the accuracy, sensitivity, and specificity were 0.828, 0.711, and 0.909, respectively. Our model also showed excellent prediction performance for high-grade PCa, with a Gleason score of 7 or higher and an AUC of 0.903. Furthermore, we evaluated the performance of the model using external cohort clinical data and achieved an AUC of 0.863. Conclusions Our ML model excelled in predicting PCa, specifically clinically significant PCa. Although extensive cross-validation in other clinical cohorts is needed, this ML model is a promising option for future diagnostics.

Colorectal cancer is the third most common cancer in Korea and the third leading cause of death from cancer. Treatment outcomes for colon cancer are steadily improving due to national health screening programs with advances in diagnostic methods, surgical techniques, and therapeutic agents.. The Korea Colon Cancer Multidisciplinary (KCCM) Committee intends to provide professionals who treat colon cancer with the most up-to-date, evidence-based practice guidelines to improve outcomes and help them make decisions that reflect their patients’ values and preferences. These guidelines have been established by consensus reached by the KCCM Guideline Committee based on a systematic literature review and evidence synthesis and by considering the national health insurance system in real clinical practice settings. Each recommendation is presented with a recommendation strength and level of evidence based on the consensus of the committee.