Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Purpose: Radical cystectomy (RC) is associated with substantial postoperative morbidity, and unplanned readmission remains common despite advances in perioperative management. However, the association between postoperative readmission due to complications and oncologic outcomes after RC for bladder cancer has not been clearly defined. We evaluated the impact of postoperative readmission on overall survival (OS) and cancer-specific survival (CSS) after RC for bladder cancer. Materials and Methods: We retrospectively analyzed 3,972 patients who underwent RC for bladder cancer in a multicenter cohort. Postoperative readmission was defined as unplanned hospitalization within 90 days postsurgery due to surgery-related complications. Survival outcomes were assessed using the Kaplan-Meier method and compared using the log-rank test. Univariable and multivariable Cox proportional hazards regression analyses were performed to identify independent predictors of OS and CSS. Results: Among the study population, 916 patients (23.1%) experienced postoperative readmission. Baseline and perioperative characteristics were generally comparable between patients with and without readmission. Kaplan-Meier analyses demonstrated significantly worse OS and CSS among patients who experienced postoperative readmission (both log-rank p<0.001). In multivariable analyses adjusting for clinicopathological factors, postoperative readmission remained independently associated with worse OS (hazard ratio [HR], 1.654; 95% confidence interval [CI], 1.464–1.868; p<0.001) and CSS (HR, 1.761; 95% CI, 1.509–2.055; p<0.001). Conclusion Postoperative readmission within 90 days after RC was independently associated with inferior long-term oncologic outcomes. These findings suggest the importance of strategies aimed at preventing postoperative complications and subsequent readmission.

Background and Objectives: The clinical significance of incidental pulmonary nodules detected during thyroid cancer evaluation remains unclear. This study aimed to investigate how such findings affect surgical decisionmaking and whether management differs by physician characteristics. Materials and Methods: A web-based survey was distributed to 722 active members of the Korean Thyroid Association in March 2025. Eligible participants included board-certified endocrinologists, endocrine surgeons, and otolaryngologists actively treating thyroid cancer. The questionnaire included clinical scenarios featuring incidental lung nodules found during thyroid cancer work-up, with respondents asked to choose preferred surgical extent (thyroid lobectomy vs. total thyroidectomy) and management approaches. Results: Out of 72 physicians who completed the survey, half (n=36, 50.0%) of the respondents answered that the presence of incidental lung nodules could influence their decision on thyroidectomy extent. Among those influenced by lung nodules, 86.1% recommended total thyroidectomy in patients with high- or intermediate-risk thyroid cancer, while 11.1% would do so for all thyroid cancer patients.Endocrinologists, compared to surgeons, were more likely to choose total thyroidectomy in patients with preoperative incidental lung nodules (78.3% vs. 36.7%, p=0.001). Conclusion Incidental lung nodules may influence surgical planning in clinicians due to the risk of micrometastasis from thyroid cancer. Endocrinologists tend to favor a more extensive surgical approach compared to surgeons, reflecting greater concern for potential metastatic disease. These findings underscore the need for multidisciplinary consensus guidelines for the management of incidental pulmonary nodules in thyroid cancer patients.

The LabGenius C-CT/NG-BMX assay (LabGenius CT/NG; BIOMEDUX, Gyeonggi, Republic of Korea) is a recently developed real-time PCR assay that can simultaneously detect the sexually transmitted pathogens Chlamydia trachomatis (CT) and Neisseria gonorrhoeae (NG) in genitourinary specimens. We evaluated the analytical performance of this assay in comparison with BD MAX CT/GC/TV (Becton Dickinson, Franklin Lakes, NJ, USA). The results of both assays were in nearly perfect agreement for the detection of CT and NG. LabGenius CT/NG demonstrated acceptable analytical performance, comparable with that of another commercially available kit, and provides a cost-effective option for detecting sexually transmitted pathogens in routine and follow-up testing.

Background: TP53 mutations are associated with poor prognosis in myelodysplastic neoplasm (MDS) and AML. The updated 5th WHO classification and International Consensus Classification (ICC) categorize TP53-mutated MDS and AML as unique entities. We conducted a multicenter study in Korea to investigate the characteristics of TP53-mutated MDS and AML, focusing on diagnostic aspects based on updated classifications. Methods: This study included patients aged ≥ 18 yrs who were diagnosed as having MDS(N = 1,244) or AML (N = 2,115) at six institutions. The results of bone marrow examination, cytogenetic studies, and targeted next-generation sequencing, including TP53, were collected and analyzed. Results: TP53 mutations were detected in 9.3% and 9.2% of patients with MDS and AML, respectively. Missense mutation was the most common, with hotspot codons R248/ R273/G245/Y220/R175/C238 accounting for 25.4% of TP53 mutations. Ten percent of patients had multiple TP53 mutations, and 78.4% had a complex karyotype. The median variant allele frequency (VAF) of TP53 mutations was 41.5%, with a notable difference according to the presence of a complex karyotype. According to the 5th WHO classification and ICC, the multi-hit TP53 mutation criteria were met in 58.6% and 75% of MDS patients, respectively, and the primary determinants were a TP53 VAF > 50% for the 5th WHO classification and the presence of a complex karyotype for the ICC. Conclusions Collectively, we elucidated the molecular genetic characteristics of patients with TP53-mutated MDS and AML, highlighting key factors in applying TP53 mutation-related criteria in updated classifications, which will aid in establishing diagnostic strategies.

Background: Primary Merkel cell carcinoma of the salivary gland is currently not listed in the World Health Organization classification. However, cases of Merkel cell type neuroendocrine carcinomas of the salivary gland with perinuclear cytokeratin 20 positivity have been intermittently reported. We here investigated the clinicopathologic features of additional cases. Methods: Data of four cases of Merkel cell type small cell neuroendocrine carcinoma of the salivary gland were retrieved. To confirm the tumors’ primary nature, clinical records and pathologic materials were reviewed. Optimal immunohistochemical staining was performed to support the diagnosis. Results: All tumors were located in the parotid gland. Possibilities of metastasis were excluded in all cases through a meticulous clinicopathological review. Tumor histology was consistent with the diagnosis of small cell neuroendocrine carcinoma. Tumors’ immunohistochemical phenotypes were consistent with Merkel cell carcinoma, including Merkel cell polyomavirus large T antigen positivity in two of the four cases. Conclusions Merkel cell carcinomas can originate in salivary glands and are partly associated with Merkel cell polyomavirus infection as in cutaneous Merkel cell carcinomas.

Background: Sleep disorders and insomnia are prevalent worldwide, with negative health outcomes. The Pittsburgh Sleep Quality Index (PSQI) is a widely used self-report assessment tool for evaluating sleep quality, comprising seven subdomains. The Korean version of the PSQI (PSQI-K) has been tested for reliability and validity in small sample sizes but lacks large-scale validation using objective measures. Methods: This study was conducted with 268 Korean adults attending health check programs. Participants completed the PSQI-K questionnaire and wore Fitbit devices (Fitbit Inc., USA) to ascertain sleep parameters. Reliability was analyzed using the Cronbach’s α coefficient, and construct validity was determined through factor analysis. Criteria validity was assessed by correlating their index scores with Fitbit sleep parameters. We identified the optimal cutoff for detecting sleep disorders. Results: The Cronbach’s α coefficient was 0.61, indicating adequate internal consistency. Factor analysis revealed three factors, explaining 48.2% of sleep quality variance. The index scores were negatively correlated with Fitbit sleep efficiency, total sleep time, and number of awakenings (P<0.05). The optimal cutoff point for identifying sleep disorder groups was ≥6. Conclusion The PSQI-K demonstrated good reliability and validity when correlated with Fitbit sleep parameters, offering a practical screening tool for identifying sleep disorders among Korean adults. Cutoff scores can help identify patients for sleep interventions. However, further large-scale studies are required to validate these findings.

Background: This study established sex-specific reference intervals (RIs) for hematological parameters, including the monocyte distribution width (MDW), in Korean adults and assessed the need for separate RIs according to sex in older adults. Methods: Hematological parameters were measured using a DxH 900 hematology analyzer (Beckman Coulter, USA) on 328 peripheral blood samples from 124 men and 204 women aged 19–93 years. Results: The RIs for white blood cells, red blood cells (RBCs), Hb, Hct, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, monocyte percentage, and neutrophil, eosinophil, lympho­cyte, and monocyte counts differed significantly by sex (P<0.05). Mean corpuscular volume was significantly positively associated with age, whereas RBC and platelet counts were significantly negatively correlated with age in both men and women. Age-based analysis revealed significant shifts in the RBC parameters beginning at 60 years of age in men and 70 years of age in women. The MDW did not show significant differences according to sex or age. Conclusions This study supports the use of sex-specific RIs and highlights the importance of considering age when interpreting results regarding hematological parameters in clinical practice.