Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that mainly occur in the stomach and small intestine; those arising in the esophagus are rarer. A 54-year-old woman was referred to our hospital with a one-month history of dysphagia. Esophagogastroduodenoscopy (EGD), performed approximately five months earlier, had not revealed any specific findings. However, an EGD performed in our hospital showed the presence of a round, protruding lesion (approximately 40×30 mm in size), with a normal overlying mucosal surface, 35–39 cm from the upper incisor. Chest computed tomography (CT) revealed a large esophageal mass. Enucleation was performed on the esophageal mass, and a GIST was diagnosed using immunochemical staining. Imatinib mesylate administration was initiated two months postoperatively. The patient was stable, without any evident recurrence in the 8-month postoperative follow-up EGD and chest CT examinations. Therefore, physicians should consider that patients with worsening dysphagia may have an underlying organic condition, such as an acute increase in size of an esophageal GIST, even if recent examinations were unremarkable.

Purpose: This study evaluated the educational impact of an artificial intelligence (AI)–based decision support system for breast ultrasonography (US) on medical professionals not specialized in breast imaging. Methods: In this multi-case, multi-reader study, educational materials, including American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) descriptors, were provided alongside corresponding AI results during training. The AI system presented results in the form of AIheatmaps, AI scores, and AI-provided BI-RADS assessment categories. Forty-two readers evaluated the test set in three sessions: the first session (S1) occurred before the educational intervention, the second session (S2) followed education without AI assistance, and the third session (S3) took place after education with AI assistance. The area under the receiver operating characteristic curve (AUC), sensitivity, specificity, and overall performance, were compared between the sessions. Results: The mean sensitivity increased from 66.5% (95% confidence interval [CI], 59.2% to 73.7%) to 88.7% (95% CI, 84.1% to 93.3%), with a statistically significant difference (P<0.001), and the AUC non-significantly increased from 0.664 (95% CI, 0.606 to 0.723) to 0.684 (95% CI, 0.620 to 0.748) (P=0.300). Both measures were higher in S2 than in S1. The AI-achieved AUC was comparable to that of the expert reader (0.747 [95% CI, 0.640 to 0.855] vs. 0.803 [95% CI, 0.706 to 0.900], P=0.217). Additionally, with AI assistance, the mean AUC for inexperienced readers was not significantly different from that of the expert reader (0.745 [95% CI, 0.660 to 0.830] vs. 0.803 [95% CI, 0.706 to 0.900], P=0.120). Conclusion The mean AUC and sensitivity improved after incorporating AI into breast US education and interpretation. AI systems with high-level performance for breast US can potentially be used as educational tools in the interpretation of breast US images.

Purpose: This multicenter, open-label, phase II trial evaluated the efficacy and safety of bortezomib combined with dexamethasone for the treatment of relapsed/refractory cutaneous T-cell lymphoma (CTCL) in previously treated patients across 14 institutions in South Korea. Materials and Methods: Between September 2017 and July 2020, 29 patients with histologically confirmed CTCL received treatment, consisting of eight 4-week cycles of induction therapy followed by maintenance therapy, contingent upon response, for up to one year. The primary endpoint was the proportion of patients achieving an objective global response. Results: Thirteen of the 29 patients (44.8%) achieved an objective global response, including two complete responses. The median progression-free survival (PFS) was 5.8 months, with responders showing a median PFS of 14.0 months. Treatment-emergent adverse events were generally mild, with a low incidence of peripheral neuropathy and hematologic toxicities. Despite the trend toward shorter PFS in patients with higher mutation burdens, genomic profiling before and after treatment showed no significant emergence of new mutations indicative of disease progression. Conclusion This study supports the use of bortezomib and dexamethasone as a viable and safe treatment option for previously treated CTCL, demonstrating substantial efficacy and manageability in adverse effects. Further research with a larger cohort is suggested to validate these findings and explore the prognostic value of mutation profiles.

Background/Aims: Hepatocellular carcinoma (HCC) exhibits significant sex disparities in incidence, yet its molecular mechanisms remain unclear. We explored the role of telomerase reverse transcriptase (TERT) genetic alterations and hepatitis B virus (HBV) integration, both known major contributors to HCC, in sex-specific risk for HBV-related HCC. Methods: We examined 310 HBV-related HCC tissues to investigate sex-specific TERT promoter (TERT-pro) mutations and HBV integration profiles, stratified by sex and age, and validated with single-cell RNA sequencing (scRNA-seq) data. Results: Tumors predominantly exhibited TERT-pro mutations (26.0% vs. 0%) and HBV-TERT integration (37.0% vs. 3.0%) compared to non-tumorous tissues. While TERT-pro mutations increased with age in both sexes, younger males (≤60 years) showed marked predominance compared to younger females. Males had significantly more HBV integrations at younger ages, while females initially had fewer integrations that gradually increased with age. Younger males' integrations showed significantly greater enrichment in the TERT locus compared to younger females, alongside a preference for promoters, PreS/S regions, and CpG islands. Overall, TERT genetic alterations were significantly sex-differential in younger individuals (75.3% in males vs. 23.1% in females) but not in older individuals (76.9% vs. 83.3%, respectively). These alterations were associated with increased TERT expression. The skewed TERT abnormalities in younger males were further corroborated by independent scRNA-seq data. Conclusions Our findings highlight the critical role of TERT alterations and HBV integration patterns in the male predominance of HCC incidence among younger HBV carriers, offering insights for future exploration to optimize sex-specific patient care and HCC surveillance strategies.

Background: Infantile hemangioma (IH) is a common benign vascular tumor that occurs during infancy. Oral propranolol is used as a first-line treatment. However, standardized guidelines for evaluating treatment efficacy, particularly the appropriate timing and parameters for Doppler ultrasound (US), have not been established. This study reports on the evaluation of therapeutic efficacy of oral propranolol solution in IH patients using Doppler US, and aims to propose the appropriate timing and parameters for using Doppler US based on this experience. Methods: A retrospective analysis was conducted on 120 patients with IH who were treated with oral propranolol solution and maintained for over 6 months from May 2017 to April 2023. Doppler US evaluation of IH was performed at diagnosis, 1-2 and 6-12 months after treatment initiation, and 6 months post-therapy cessation. A complete response (CR) was identified as a reduction in vascularity along with a decrease in longest diameter (LD) or thickness of 50% or more. Recurrence was evaluated based on increased vascularity or size 6 months after treatment discontinuation. Results: Of 120 patients with IH, 82 females and 38 males were analyzed. IH was first detected at a median age of 12 days (range, 1-240 days), and treatment began at 76 days (range, 27-570 days), continuing for an average of 10.4 months (range, 5-24 months). Initial Doppler US measurements showed an LD of 2.65±1.52 cm and a thickness of 0.79±0.55 cm, with prominent vascularity. After 1-2 months of treatment, LD and thickness decreased by 12.9% and 25.9%, respectively. By 6-12 months, reductions reached 37.2% and 53.6%. CR occurred in 77 patients (64.2%) after 6-12 months of treatment. Eleven patients (9.2%) experienced a recurrence. Conclusion Doppler US is a valuable modality for evaluating the characteristics, treatment response, and recurrence of IH treated with oral propranolol.

Background: Studies on predictive markers of insulin resistance (IR) and elevated liver transaminases in children and adolescents are limited. We evaluated the predictive capabilities of the single-point insulin sensitivity estimator (SPISE) index, metabolic score for insulin resistance (METS-IR), homeostasis model assessment of insulin resistance (HOMA-IR), the triglyceride (TG)/ high-density lipoprotein cholesterol (HDL-C) ratio, and the triglyceride-glucose index (TyG) for IR and alanine aminotransferase (ALT) elevation in this population. Methods: Data from 1,593 participants aged 10 to 18 years were analyzed using a nationwide survey. Logistic regression analysis was performed with IR and ALT elevation as dependent variables. Receiver operating characteristic (ROC) curves were generated to assess predictive capability. Proportions of IR and ALT elevation were compared after dividing participants based on parameter cutoff points. Results: All parameters were significantly associated with IR and ALT elevation, even after adjusting for age and sex, and predicted IR and ALT elevation in ROC curves (all P<0.001). The areas under the ROC curve of SPISE and METS-IR were higher than those of TyG and TG/HDL-C for predicting IR and were higher than those of HOMA-IR, TyG, and TG/HDL-C for predicting ALT elevation. The proportions of individuals with IR and ALT elevation were higher among those with METS-IR, TyG, and TG/ HDL-C values higher than the cutoff points, whereas they were lower among those with SPISE higher than the cutoff point. Conclusion SPISE and METS-IR are superior to TG/HDL-C and TyG in predicting IR and ALT elevation. Thus, this study identified valuable predictive markers for young individuals.

Background/Aims: Magnifying endoscopy with narrow-band imaging (ME-NBI) enables the visualization of detailed microsurface (MS) and microvascular (MV) structures in the gastrointestinal tract. White globe appearance (WGA) is a small whitish lesion with a globular shape identified during ME-NBI for early gastric cancer (EGC). This study aimed to investigate the associations between WGA, clinicopathological characteristics, and other ME-NBI findings in patients with EGC. Methods: The presence or absence of WGA in 122 patients (126 lesions) with an endoscopic diagnosis of EGC who underwent ME-NBI before endoscopic or surgical resection was prospectively collected and retrospectively analyzed. During ME-NBI, the MS and MV patterns and the presence of WGA and white opaque substances (WOS) were investigated. EGC cases were categorized as differentiated or undifferentiated type, and mucosal, submucosal, or advanced. Results: Of 126 lesions, WGA was observed in 25 (19.8%). WGA was associated with tumor size (≤2 cm [17/63, 27.0%] vs >2 cm [8/63, 12.7%]; p=0.044), histologic type differentiated type [22/89, 24.7%] vs undifferentiated type [3/37. 8.1%]; p=0.033), and tumor location (upper third [1/11, 9.1%] vs middle third [18/58, 31.0%] and lower third [6/57, 10.5%]; p=0.017). Although WGA was observed more frequently in lesions with an oval/tubular MS pattern, a fine-network MV pattern, and the absence of WOS, the difference was not statistically significant (MS pattern, p=0.358; MV pattern, p=0.212; WOS, p=0.121, respectively). Conclusions WGA was associated with small tumor size, differentiated-type histology, and middle-third tumor location, and was more frequently observed in lesions with an oval/tubular MS and fine-network MV patterns and the absence of WOS.

Background/Aims: Findings on the impact of Helicobacter pylori eradication on metabolic parameters are inconsistent. This study aimed to evaluate the effects of H. pylori eradication on metabolic parameters and body composition, including body fat mass and skeletal muscle mass. Methods: We retrospectively reviewed the data of asymptomatic patients who underwent health screenings, including bioelectrical impedance analysis, before and after H. pylori eradication between 2005 and 2021. After matching individuals based on key factors, we compared lipid profiles, metabolic parameters, and body composition between 823 patients from the eradicated group and 823 patients from the non-eradicated groups. Results: Blood pressure, erythrocyte sedimentation rate, and glycated hemoglobin values were significantly lower in the eradicated group than in the non-eradicated group. However, changes in body mass index (BMI), body fat mass, appendicular skeletal muscle mass (ASM), waist circumference, and lipid profiles were not significantly different between the two groups. In a subgroup analysis of individuals aged >45 years, blood pressure, erythrocyte sedimentation rate, and glycated hemoglobin changes were significantly lower in the eradicated group than in the noneradicated group. BMI values were significantly higher in the eradicated group than in the noneradicated group; however, no significant differences were observed between the two groups regarding changes in body weight, body fat mass, ASM, or waist circumference. Total cholesterol and low-density lipoprotein cholesterol levels were significantly lower in the eradicated group than in non-eradicated group. Conclusions H. pylori eradication significantly reduced blood pressure, glucose levels, and systemic inflammation and improved lipid profiles in patients aged >45 years. BMI, body fat mass, ASM, and waist circumference did not significantly differ between patients in the eradicated group and those in the non-eradicated group.

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that mainly occur in the stomach and small intestine; those arising in the esophagus are rarer. A 54-year-old woman was referred to our hospital with a one-month history of dysphagia. Esophagogastroduodenoscopy (EGD), performed approximately five months earlier, had not revealed any specific findings. However, an EGD performed in our hospital showed the presence of a round, protruding lesion (approximately 40×30 mm in size), with a normal overlying mucosal surface, 35–39 cm from the upper incisor. Chest computed tomography (CT) revealed a large esophageal mass. Enucleation was performed on the esophageal mass, and a GIST was diagnosed using immunochemical staining. Imatinib mesylate administration was initiated two months postoperatively. The patient was stable, without any evident recurrence in the 8-month postoperative follow-up EGD and chest CT examinations. Therefore, physicians should consider that patients with worsening dysphagia may have an underlying organic condition, such as an acute increase in size of an esophageal GIST, even if recent examinations were unremarkable.