Background: Copy number variations (CNVs) play an important role in human genetic disorders. Detection of exon-level CNVs is crucial for accurate clinical diagnosis. The CytoScan XON Array, a high-resolution microarray, was recently developed to detect exonic CNVs of various genes. Methods: We evaluated the clinical performance of the CytoScan XON Array using 59 patient samples with previously identified CNVs, confirmed via methods including multiple ligation-dependent probe amplification (MLPA), gene-dose PCR, and mRNA assay. Concordance between CytoScan XON and orthogonal methods was evaluated in target regions, and diagnostic utility was compared with that of genome sequencing (GS)-based CNV calling tools through analysis of false-positive CNVs in non-target genomic regions. Results: For target regions, the CytoScan XON Array achieved concordance rates of 89.8% and 92.5% at the exon and gene levels, respectively, for all CNV calls. Concordance was higher for multi-exon CNVs (100%) than that for single-exon CNVs (82.6%, P = 0.03). For non-target regions, false-positive CNV calls were reduced to fewer than 0.01 per gene per person through filtering strategies. The array exhibited false-positive detection rates within dosage-sensitive genes comparable with those of GS-based tools. Conclusions The CytoScan XON Array, a reliable tool for detecting exon-level CNVs in target regions, can serve as a complementary approach to GS-based CNV calling tools for genome-wide CNV screening with high resolution. However, its performance for single-exon CNVs requires further optimization. Cross-validation with GS-based CNV calling tools is recommended to improve diagnostic accuracy.

Background: Perfluoroalkyl substances (PFAS) are used in various products, and PFAS have been detected in outdoor clothing. PFAS can be absorbed into the human body via oral ingestion, inhalation, and dermal contact. In this study, we examined the association between the frequency of using outdoor clothing and serum PFAS concentrations in the Korean population using data from cycle 4 (2018–2020) of the Korean National Environmental Health Survey. Methods: Data from 2,993 adult participants were analyzed. The participants were classified into low-concentration and high-concentration groups based on the 75th percentile concentration of serum PFAS. The use of outdoor clothing was categorized into three groups: non-use, <4 times a week, and ≥4 times a week. The odds ratio (OR) for serum PFAS levels associated with use of outdoor clothing was determined through logistic regression analysis, adjusted for demographic characteristics, health-related factors, PFAS-treated items, dietary factors, and ventilation time. Results: ORs for high serum PFAS were higher in groups using outdoor clothing compared to the non-user group. In males, the adjusted ORs for the < 4 times a week and ≥ 4 times a week outdoor clothing usage group were as follows: perfluorooctanoic acid (PFOA), 1.26 (95% confidence interval [CI]: 1.10–1.44) and 1.70 (1.40–2.07); perfluorohexanesulfonic acid (PFHxS), 1.49 (1.16–1.92) and 1.70 (1.22–2.37); and perfluorononanoic acid (PFNA), 1.34 (1.19–1.51) and 1.68 (1.38–2.05), respectively. In females, the respective ORs were as follows: PFOA 1.32 (95% CI: 1.19–1.46) and 1.53 (1.01–2.32); PFHxS, 1.46 (1.08–1.96) and 2.63 (2.10–3.29); PFNA, 1.38 (1.22–1.55) and 1.45 (1.07–1.96). Conclusions In adults, elevated serum PFAS levels were associated with increased frequency of using outdoor clothing.

This study examined the associations of fall experiences with cognitive function and activities of daily living (ADL) disability among older adults. Methods: Using data from the 2023 National Survey of Older Koreans, a total of 9,816 individuals aged 65 years or older were analyzed. Independent samples t-tests, ANOVA, chi-square tests, linear regression, and logistic regression analyses were conducted. Additionally, subgroup regression analyses were conducted to identify socially vulnerable groups according to age group, education level, and caregiving expenses. Results: The analysis showed that cognitive function tended to be lower in individuals with fall experience (β=-0.44, p=.026), and the odds of ADL disability were higher among individuals with fall experience (odds ratio [OR]=2.04, 95% confidence interval [95% CI]=1.63~2.54). In addition, subgroup analyses showed that cognitive function was lower among individuals with fall experience in the ≥85 years group (β=- 1.30, p=.020) and among those with education at elementary school or below (β=-0.88, p=.001). The odds of ADL disability among those with fall experience were higher among those aged 65~74 years (vs. 75~84; OR=2.80, 95% CI=1.99~3.94) and ≥85 years (vs. 75~84; OR=2.59, 95% CI=1.38~4.84), those with higher education (vs. lower; OR=4.95, 95% CI=1.19~20.60), and those with no caregiving expenses (vs. any; OR=2.06, 95% CI=1.63~2.60). Conclusion: These findings provide important foundational data for both policy development and academic research. They highlight the need for a multifaceted approach to fall prevention and underscore its importance in enhancing the quality of life for the older adults.

Over the past 4 years, trichorhinophalangeal syndrome type 1 (TRPS1) has rapidly gained attention among practicing pathologists, with numerous studies emerging that both support and question its diagnostic utility. Initially regarded as a highly specific marker for tumors of mammary origin, TRPS1 is now recognized to have broader expression patterns, including in a variety of cutaneous neoplasms. This is likely due to embryologic parallels between breast tissue and skin adnexal structures, an overlap that was underappreciated in early investigations. Although TRPS1 lacks absolute specificity—even among cutaneous neoplasms—it can still offer meaningful diagnostic value when interpreted alongside conventional immunohistochemical markers and within the appropriate morphologic context. Noteworthy diagnostic applications include mammary Paget disease, primary extramammary Paget disease, rare adnexal neoplasms such as endocrine mucin-producing sweat gland carcinoma and primary cutaneous NUT adnexal carcinoma, and cutaneous metastases from breast carcinoma. In this review, we present the most comprehensive and up-to-date evaluation of the utility and limitations of TRPS1 immunohistochemistry in dermatopathology. Our aim is to deepen understanding of this emerging marker and provide practical guidance on its optimal integration with established immunohistochemical panels to enhance diagnostic accuracy in routine practice.

The scope of gene fusions in melanocytic neoplasms is broader than previously recognized, extending well beyond the Spitz-lineage neoplasms where kinase fusions involving ALK, ROS1, NTRK1/2/3, RET, MET, BRAF, and MAP3K8 define biologically and morphologically distinct tumors. Emerging studies demonstrate that a meaningful proportion of conventional non-Spitz lineage melanomas harbor oncogenic fusions. Such fusions may impact clinical behavior, histopathologic presentation and provide opportunities for targeted therapy. The World Health Organization classification of skin tumors, 5th edition, now incorporates fusion status into taxonomy and risk stratification, yet some important questions remain for further investigation: fusion-associated neoplasms can mimic non-melanocytic neoplasm; Spitz-type fusions appear in non-Spitz lesions; and melanocytic differentiation may occur in some other fusion-driven lesions. Broad-panel next-generation sequencing (including RNAseq), together with targeted fluorescence in situ hybridization and immunohistochemistry enhances detection of known and novel fusion partners. Early clinical evidence of TRK, ALK, and ROS1 inhibitor efficacy underscores the translational promise of fusion testing and opens avenues for personalized therapy. This review synthesizes current knowledge on the genomics, histopathology, diagnosis, and therapeutic implications of fusion-driven melanocytic neoplasms, highlighting consensus points and remaining controversies.

Background: Handgrip strength (HGS) is an indicator of late-life health, associated with disability, cardiovascular and all-cause mortality. While exercise helps maintain HGS, diabetes may reduce its benefits. This study investigated the association between exercise and low HGS (LHGS) stratified by diabetes status and sex. Methods: Data from 16,443 participants in the 2017–2019 Korea National Health and Nutrition Examination Survey were analyzed. HGS was measured using a digital dynamometer. Exercise type and frequency were assessed by questionnaire. Three-way and twoway interaction terms were analyzed for exercise, sex and diabetes. Results: Aerobic exercise, resistance exercise, and diabetes were significantly associated with LHGS (P<0.05). A significant interaction between diabetes and aerobic exercise was observed in females (odds ratio [OR] of LHGS=1.704, 95% confidence interval= 1.073–2.707). Among males, both exercise types were associated with lower odds of LHGS regardless of diabetes status, except for aerobic exercise in non-diabetic males. Among males, the ORs of LHGS for aerobic and resistance exercise were 0.479 (0.278– 0.827) and 0.317 (0.165–0.611) with diabetes, 0.757 (0.554–1.035) and 0.536 (0.360–0.798) without diabetes. Among females, the ORs of LHGS for aerobic exercise and resistance exercise were 1.109 (0.716–1.719) and 0.529 (0.224–1.249) with diabetes, 0.676 (0.539–0.848) and 0.795 (0.564–1.121) without diabetes. Conclusions The modifying effect of diabetes on the relationship between exercise and grip strength was observed in females but not in males. Females with diabetes may require tailored exercise guideline to prevent LHGS.

This case describes a male with a history of type 1 autoimmune pancreatitis (AIP) who had a concomitant branch-duct intraductal papillary mucinous neoplasm under long-term surveillance. During follow-up, new high-risk radiologic features developed within the pancreatic cyst, raising concern for malignant transformation and ultimately leading to surgical resection. However, final histopathologic examination revealed recurrent type 1 AIP rather than malignant progression of branch-duct intraductal papillary mucinous neoplasm, a finding that represents an uncommon and diagnostically challenging manifestation. This case suggests that when new imaging changes are observed during surveillance of pancreatic cystic lesions, clinicians should consider not only malignant transformation but also the possibility of recurrence or coexistence of underlying diseases such as AIP.

Purpose: Technological advancements have enabled reduced-port robotic systems, enhancing the benefits of robotic surgery. This study compared the surgical outcomes of conventional multiport (5 ports), single-site (2 ports), and singleport (2 ports) robotic gastrectomy for gastric cancer. Methods: A prospectively collected database was retrospectively reviewed for patients who underwent robotic distal subtotal gastrectomy between January 2010 and August 2022 at Severance Hospital, Yonsei University Health System. The initial 20 cases from each group (multiport, single-site, and SP) were analyzed, focusing on demographics, surgical procedures, pathological results, and postoperative outcomes. The “textbook outcome” metric was employed to assess surgical quality. Results: The SP group showed lower visual analog pain scale compared to the multiport and single-site groups (3.5, 4.4, and 4.3, respectively, P = 0.017), faster time to first flatus (2.0, 2.7, and 2.8 days, respectively; P < 0.001), and shorter hospital stays (3.5, 6.2, and 5.5 days, respectively; P < 0.001). No significant differences were observed in major complications, unplanned intensive care unit care, readmission, or mortality between the groups. The rate of patients achieving textbook outcomes were 85.0% for the multiport group, 100% for the single-site group, and 95.0% for the SP group (P = 0.310). Conclusion Reduced-port robotic gastrectomy, including single-site and SP, has shown surgical safety with a high proportion of patients meeting textbook outcomes. The SP system demonstrated less pain and faster recovery, aligning with minimally invasive surgical goals. Therefore, the SP system could be a reliable and safe option for robotic gastrectomy, offering enhanced recovery without compromising surgical quality.

Purpose: While MRI-based tumor regression grade (mrTRG) has shown promise in evaluating pathologic response to concurrent chemoradiotherapy (CCRT) in rectal cancer, its ability to predict pathologic complete response remains limited.This study aimed to enhance mrTRG’s diagnostic performance in predicting ypT0–1N0 status, a key factor in considering non-radical management after CCRT for locally advanced rectal cancer (LARC). Methods: This retrospective study included 430 patients with LARC who underwent radical resection following CCRT at a single referral hospital between April 2018 and September 2024. Multivariable logistic regression was used to identify predictive factors associated with achieving ypT0–1N0 status. The diagnostic performances of mrTRG1–2 alone and in combination with other factors were assessed by comparing sensitivity, specificity, positive-predictive value (PPV), negative-predictive value, and area under the curve (AUC). Results: Ninety-three patients (21.6%) achieved ypT0–1N0. In the multivariable analysis, fungating type, cT1–2, and mrTRG1–2 were independent predictors for ypT0–1N0. Integrating mrTRG with gross tumor type yielded the highest AUC of 0.689 among the combined models. For predicting ypT0–1N0, the combination of mrTRG and gross tumor type improved PPV (79.2% vs. 41.5% for mrTRG alone) while also demonstrating enhanced sensitivity compared with ycT0–1N0, the conventional MRI-based predictor (40.9% vs. 22.6%). Conclusion This study demonstrated that combining mrTRG and gross tumor type improved the PPV of mrTRG in predicting ypT0–1N0 after CCRT in LARC. Further studies are warranted to validate the role of gross tumor type in refining predictive systems for selecting candidates for non-radical treatment.