Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Objective: This study evaluated the clinical effectiveness of Minds.NAVI, a depression screening kit combining psychometric measures and stress hormone biomarkers, in a prospective clinical trial. The objective was to assess its potential as a depression screening tool and investigate the associations between psychological assessments, salivary hormone staging, and depression severity. Methods: Thirty-five participants with major depressive disorder and 12 healthy controls (HCs) were included. The Minds.NAVI software, utilizing the PROtective and Vulnerable factors battEry Test (PROVE) and salivary cortisol/dehydroepiandrosterone (DHEA) analysis, was employed. The PROVE test is a comprehensive self-report questionnaire that assesses depressive symptoms, suicide risk, attachment style, adverse childhood experiences, mentalization capacity, and resilience. In addition, salivary cortisol and DHEA levels were measured to evaluate the functional stage of the hypothalamic–pituitary–adrenal (HPA) axis. Results: Minds.NAVI exhibited 100% sensitivity, 91.7% specificity, and 97.9% accuracy in distinguishing depression from HCs within an exploratory small group. Salivary stress hormone phases showed changes with depression stage (p=0.030), and the proportion of patients with “adrenal exhaustion stage” was higher in the moderate/severe depression group (p=0.038). Protective/vulnerable factors differed significantly between controls and depressed groups (p<0.001). Cortisol awakening response inversely correlated with depressive symptom severity (r=-0.31, p=0.034). Conclusion This study suggested possible clinical effectiveness of Minds.NAVI, a depression screening tool that integrates psychometric measures and stress hormone biomarkers. The findings support the potential association between depression, chronic stress, and HPA axis hyporesponsiveness.

Objectives: . Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients. Methods: . Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated. Results: . In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms. Conclusion . Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.

BACKGROUND: Recently, the number of lung transplants in South Korea has increased. However, the long-term outcome data is limited. In this study, we aimed to investigate the long-term outcomes of adult lung transplantation recipients. METHODS: Among the patients that underwent lung transplantation at a tertiary referral center in South Korea between 2008 and 2017, adults patient who underwent deceased-donor lung transplantation with available follow-up data were enrolled. Their medical records were retrospectively reviewed. RESULTS: Through eligibility screening, we identified 60 adult patients that underwent lung (n=51) or heart-lung transplantation (n=9) during the observation period. Idiopathic pulmonary fibrosis (46.7%, 28/60) was the most frequent cause of lung transplantation. For all the 60 patients, the median follow-up duration for post-transplantation was 2.6 years (range, 0.01–7.6). During the post-transplantation follow-up period, 19 patients (31.7%) died at a median duration of 194 days. The survival rates were 75.5%, 67.6%, and 61.8% at 1 year, 3 years, and 5 years, respectively. Out of the 60 patients, 8 (13.3%) were diagnosed with chronic lung allograft dysfunction (CLAD), after a mean duration of 3.3±2.8 years post-transplantation. The CLAD development rate was 0%, 17.7%, and 25.8% at 1 year, 3 years, and 5 years, respectively. The most common newly developed post-transplantation comorbidity was the chronic kidney disease (CKD; 54.0%), followed by diabetes mellitus (25.9%). CONCLUSION Among the adult lung transplantation recipients at a South Korea tertiary referral center, the long-term survival rates were favorable. The proportion of patients who developed CLAD was not substantial. CKD was the most common post-transplantation comorbidity.

PURPOSE: Predicting lymph node metastasis (LNM) risk is crucial in determining further treatment strategies following endoscopic resection of T1 colorectal cancer (CRC). This study aimed to establish a new prediction model for the risk of LNM in T1 CRC patients. MATERIALS AND METHODS: The development set included 833 patients with T1 CRC who had undergone endoscopic (n=154) or surgical (n=679) resection at the National Cancer Center. The validation set included 722 T1 CRC patients who had undergone endoscopic (n=249) or surgical (n=473) resection at Daehang Hospital. A logistic regression model was used to construct the prediction model. To assess the performance of prediction model, discrimination was evaluated using the receiver operating characteristic (ROC) curves with area under the ROC curve (AUC), and calibration was assessed using the Hosmer-Lemeshow (HL) goodness-of-fit test. RESULTS: Five independent risk factors were determined in the multivariable model, including vascular invasion, high-grade histology, submucosal invasion, budding, and background adenoma. In final prediction model, the performance of the model was good that the AUC was 0.812 (95% confidence interval [CI], 0.770 to 0.855) and the HL chi-squared test statistic was 1.266 (p=0.737). In external validation, the performance was still good that the AUC was 0.771 (95% CI, 0.708 to 0.834) and the p-value of the HL chi-squared test was 0.040. We constructed the nomogram with the final prediction model. CONCLUSION: We presented an externally validated new prediction model for LNM risk in T1 CRC patients, guiding decision making in determining whether additional surgery is required after endoscopic resection of T1 CRC.
Adenoma ; Area Under Curve ; Calibration ; Colorectal Neoplasms ; Decision Making ; Discrimination (Psychology) ; Humans ; Logistic Models ; Lymph Nodes ; Neoplasm Metastasis ; Nomograms ; Risk Factors ; ROC Curve

BACKGROUND: Recently, the number of lung transplants in South Korea has increased. However, the long-term outcome data is limited. In this study, we aimed to investigate the long-term outcomes of adult lung transplantation recipients. METHODS: Among the patients that underwent lung transplantation at a tertiary referral center in South Korea between 2008 and 2017, adults patient who underwent deceased-donor lung transplantation with available follow-up data were enrolled. Their medical records were retrospectively reviewed. RESULTS: Through eligibility screening, we identified 60 adult patients that underwent lung (n=51) or heart-lung transplantation (n=9) during the observation period. Idiopathic pulmonary fibrosis (46.7%, 28/60) was the most frequent cause of lung transplantation. For all the 60 patients, the median follow-up duration for post-transplantation was 2.6 years (range, 0.01–7.6). During the post-transplantation follow-up period, 19 patients (31.7%) died at a median duration of 194 days. The survival rates were 75.5%, 67.6%, and 61.8% at 1 year, 3 years, and 5 years, respectively. Out of the 60 patients, 8 (13.3%) were diagnosed with chronic lung allograft dysfunction (CLAD), after a mean duration of 3.3±2.8 years post-transplantation. The CLAD development rate was 0%, 17.7%, and 25.8% at 1 year, 3 years, and 5 years, respectively. The most common newly developed post-transplantation comorbidity was the chronic kidney disease (CKD; 54.0%), followed by diabetes mellitus (25.9%). CONCLUSION: Among the adult lung transplantation recipients at a South Korea tertiary referral center, the long-term survival rates were favorable. The proportion of patients who developed CLAD was not substantial. CKD was the most common post-transplantation comorbidity.
Adult ; Allografts ; Comorbidity ; Diabetes Mellitus ; Follow-Up Studies ; Heart-Lung Transplantation ; Humans ; Idiopathic Pulmonary Fibrosis ; Korea ; Lung Transplantation ; Lung ; Mass Screening ; Medical Records ; Renal Insufficiency, Chronic ; Retrospective Studies ; Survival Rate ; Tertiary Care Centers

A gastrocolocutaneous fistula is a rare complication of percutaneous endoscopic gastrostomy (PEG). We report a case of a gastrocolocutaneous fistula presenting with intractable diarrhea and gastrostomy tube malfunction. A 62-year-old woman with a history of multiple system atrophy was referred to us because of PEG tube malfunction. Twenty days prior to presentation, the patient started developing sudden diarrhea within minutes after starting PEG feeding. Fluoroscopy revealed that the balloon of the PEG tube was located in the lumen of the transverse colon with the contrast material filling the colon. Subsequently, the PEG tube was removed and the opening of the gastric site was endoscopically closed using hemoclips. Clinicians should be aware of gastrocolocutaneous fistula as one of the complications of PEG insertion. Sudden onset of diarrhea, immediately after PEG feedings, might suggest this complication, which can be effectively treated with endoscopic closure.
Colon ; Colon, Transverse ; Diarrhea* ; Female ; Fistula* ; Fluoroscopy ; Gastrostomy* ; Humans ; Middle Aged ; Multiple System Atrophy

PURPOSE: This study compared the perioperative clinical outcomes of reduced-port laparoscopic surgery (RPLS) with those of conventional multiport laparoscopic surgery (MPLS) for patients with sigmoid colon cancer and investigated the safety and feasibility of RPLS performed by 1 surgeon and 1 camera operator. METHODS: From the beginning of 2010 until the end of 2014, 605 patients underwent a colectomy for sigmoid colon cancer. We compared the characteristics, postoperative outcomes, and pathologic results for the patients who underwent RPLS and for the patients who underwent MPLS. We also compared the clinical outcomes of single-incision laparoscopic surgery (SILS) and 3-port laparoscopic surgery. RESULTS: Of the 115 patients in the RPLS group, 59 underwent SILS and 56 underwent 3-port laparoscopic surgery. The MPLS group included 490 patients. The RPLS group had shorter operating time (137.4 ± 43.2 minutes vs. 155.5 ± 47.9 minutes, P < 0.001) and shorter incision length (5.3 ± 2.2 cm vs. 7.8 ± 1.2 cm, P < 0.001) than the MPLS group. In analyses of SILS and 3-port laparoscopic surgery, the SILS group showed younger age, longer operating time, and shorter incision length than the 3-port surgery group and exhibited a more advanced T stage, more lymphatic invasion, and larger tumor size. CONCLUSION: RPLS performed by 1 surgeon and 1 camera operator appears to be a feasible and safe surgical option for the treatment of patients with sigmoid colon cancer, showing comparable clinical outcomes with shorter operation time and shorter incision length than MPLS. SILS can be applied to patients with favorable tumor characteristics.
Colectomy ; Colon, Sigmoid* ; Humans ; Laparoscopy* ; Sigmoid Neoplasms*