Secondary rhabdoid tumors (RTs) with atypical teratoid/rhabdoid tumor-like features rarely arise from, or coexist with, pleomorphic xanthoastrocytomas (PXAs), and their clinicopathological and molecular characteristics remain poorly understood. We report a 17-year-old girl with a temporal lobe mass that, upon gross total resection, pathologically contained both RT and PXA components. Immunohistochemistry revealed loss of INI1 expression restricted to the RT component, while the PXA area retained INI1. Next-generation sequencing identified a shared BRAF::TRIM24 fusion and homozygous deletion of CDKN2A/2B in both components, indicating a shared clonal origin. Additionally, a germline ATM frameshift mutation (c.5288_5289insGA) was identified in both tumor components, making the first such report in central nervous system tumors. SMARCB1 loss was confined to the RT component, further supporting the hypotheses of clonal evolution and secondary transformation. Despite gross total resection, craniospinal irradiation, and chemotherapy, the patient developed rapid leptomeningeal dissemination and died 5 months after surgery. This case provides clinicopathological and molecular evidence for clonal evolution and secondary transformation of PXA into an RT. The presence of germline ATM mutation may have therapeutic and biological relevance. Further studies are required to clarify the pathogenesis and optimal management of these rare and aggressive tumors.

Background: and Purpose: To assess the long-term effectiveness, safety, and economic viability of recently approved Alzheimer’s disease (AD) therapies, as well as to evaluate the real-world application of novel diagnostics among AD patients with diverse comorbidities, comprehensive real-world data (RWD) analysis is essential. The Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ) endeavors to create a registry of RWD derived from clinical practice on new diagnostic methods and therapeutic agents for AD introduced in Korea since 2021. Methods: Participants must fulfill all the following: 1) be at least 19 years old; 2) be actively receiving, scheduled to initiate, or undergoing evaluation for any AD disease-modifying treatment; 3) have completed amyloid positron emission tomography or cerebrospinal fluid AD immunoassay (a positive result is not essential for participation); 4) have a clinical classification of cognitively unimpaired, mild cognitive impairment, or probable AD dementia. Data generated during routine care is segmented into a minimum dataset, extended dataset, and research-only dataset requiring extra consent. Assessments encompass clinical, cognitive, functional, neurobehavioral, neuroimaging, and biomarker evaluations, in addition to systematic monitoring of new AD treatments and their safety.Data are collected and monitored at baseline, at semiannual intervals during the initial 2 years, and then annually up to 2034. To date, 46 medical centers will participate in JOY-ALZ. Conclusions JOY-ALZ is expected to promote understanding of the long-term clinical outcomes, safety, and cost-effectiveness of recently introduced diagnostics and treatments for AD, thereby supporting the progress of precision medicine in AD care and diagnosis.

Background: Lifestyle modifications are critical in addressing metabolic dysfunction-associated steatotic liver disease (MASLD); however, the specific macronutrients that most significantly influence the disease’s progression are uncertain. In this study, we aimed to explore the role of carbohydrate, fat, and protein intake in MASLD development using decision trees, random forest models, and cluster analysis. Methods: Participants (n=3,951) from the Korean Genome and Epidemiology Study were included. We used the classification and regression tree analysis to classify participants into subgroups based on variables associated with the incidence of new-onset MASLD. Random forest analyses were used to assess the relative importance of each variable. Participants were grouped into homogeneous clusters based on carbohydrate, protein, fat, and total caloric intake using hierarchical cluster analysis. Subsequently, we used the Cox proportional hazards regression models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for MASLD risk across the clusters. Results: Carbohydrate intake was identified as the most significant predictor of new-onset MASLD, followed by fat, protein, and total caloric intake. Participants in cluster 3, who consumed a lower proportion of carbohydrate but had higher total caloric, protein, and fat intake, had a lower risk of new-onset MASLD than those in cluster 1 after adjusting for confounders (cluster 1 as a reference; cluster 3: HR, 0.90; 95% CI, 0.82 to 0.99). Conclusion The study’s results highlight the critical role of macronutrient composition, particularly carbohydrate intake, in MASLD development. The findings suggest that dietary strategies focusing on optimizing macronutrients, rather than simply reducing caloric intake, may be more effective in preventing MASLD.

Background/Aims: Biliary tract cancer (BTC) is a rare malignancy with poor prognosis. We investigated genomic determinants of clinical benefit from gemcitabine, cisplatin, and nab-paclitaxel (GAP) versus gemcitabine and cisplatin (GC) in advanced BTC. Methods: Clinical and genomic data using TruSight Oncology 500 were analyzed from patients treated with GAP (N=198) or GC (N=89) as first-line therapy. Results: With a median follow-up of 33.0 months, GAP modestly improved progression-free survival (PFS) (hazard ratio [HR] 0.764; 95% confidence interval [CI] 0.591–0.989) without significant overall survival (OS) difference compared to GC. Genomic profiling revealed frequent alterations in TP53 (35.2%), KRAS (16.4%), SMAD4 (10.5%), and TNFRSF14 (10.5%), involving RTK/RAS (44.3%), TP53 (41.8%), and PI3K (20.2%) pathways. Single-gene mutations did not predict treatment benefit. However, pathway-level analysis identified PI3K pathway activation as significantly associated with inferior PFS (HR 2.148; 95% CI 1.478–3.124) and OS (HR 2.096; 95% CI 1.413–3.109) in patients receiving GAP, an effect not observed with GC. Importantly, GAP conferred clinical benefit only in patients without PI3K pathway activation, while no survival advantage was seen in those with such alterations (Pinteraction=0.023 for PFS, Pinteraction=0.003 for OS). Similar results were obtained in the independent validation cohort treated with GAP (N=103) or GC (N=64) for BTC. Conclusions Genomic profiling using next-generation sequencing identified PI3K pathway activation as key molecular determinant that differentiates patient outcomes between GAP and GC treatments in advanced BTC.

Background: Radioactive iodine treatment (RAIT) is an essential therapy for differentiated thyroid cancer. However, unforeseen complications arising during thyroid hormone withdrawal (THW) can lead to Cancellation of the scheduled treatment. This study aimed to identify cases in which THW-RAIT was discontinued due to THW-related complications and to explore potentially preventable causes to improve patient management. Methods: Among 4,174 patients who underwent THW-RAIT between 2012 and 2024, 39 did not complete the planned treatment. After excluding Cancellations unrelated to THW, 11 (0.26%) patients with unexpected THW-related medical issues were analyzed. Results: The median age of the included patients was 61 years (range, 23 to 70), and 10 were male. The reasons for THW-RAIT Cancellation were hyponatremia (n=1), abnormal liver function (n=1), renal dysfunction (n=3), and combined liver and renal dysfunction (n=6). The patient with hyponatremia was taking a thiazide diuretic. Most cases of liver dysfunction were associated with prior use of herbal medications, whereas renal dysfunction was linked to diuretic or nonsteroidal anti-inflammatory drug use, pre-existing conditions such as single kidney or diabetic nephropathy, or inadequate oral intake during low-iodine preparation. Two cases of concurrent liver and renal dysfunction were attributed to rhabdomyolysis following intense exercise or heavy physical labor. Conclusion Enhanced patient education, comprehensive pre-treatment assessment, and careful avoidance of high-risk medications are essential to prevent THW-related complications and minimize disruptions in RAIT.

Purpose: To assess the accuracy of supraspinatus muscle fat fraction and atrophy measured on the Y-view compared with the newly proposed fossa-view sagittal MRI plane. Materials and Methods: This study included 84 patients (36 male; mean age, 65.1 ± 10.1 years) who underwent shoulder MRI with extended oblique sagittal T1-weighted and three-dimensional (3D) six-echo Dixon imaging between December 2020 and November 2022. The reference fat fraction was calculated by integrating voxel-wise Dixon values, while supraspinatus muscle volume was quantified using a 3D nnU-Net algorithm and normalized to the scapular volume to derive the standardized muscle index (SMI). Fat fraction and cross-sectional area were quantified on the Y-view and fossaview and compared with the reference values. Subgroup analyses were performed using fatty degeneration and retraction grades. Results: Agreement with the reference fat fraction was significantly higher for the fossa-view (intraclass correlation coefficient [ICC], 0.923) than for the Y-view (ICC, 0.822;p = 0.006). The fossa-view showed smaller deviations and narrower limits of agreement.For SMI, the Y-view (ICC, 0.782) showed higher agreement than the fossa-view (ICC, 0.694), although the difference was not statistically significant (p = 0.219). Subgroup analyses showed better Y-view performance at lower retraction grades and better fossa-view performance at higher grades, although the differences were not statistically significant (all p > 0.05). Conclusion Both planes reliably quantified the fat fraction with greater accuracy in the fossa-view. However, single-plane assessment of muscle atrophy was less reliable, underscoring the need for MRI evaluation of the entire muscle.

Purpose: Based on the KEYNOTE-522 study, neoadjuvant pembrolizumab plus chemotherapy has become the standard treatment for early-stage triple-negative breast cancer (TNBC).This study evaluated the real-world efficacy, safety, and predictors of pathologic complete response (pCR) in Korean patients. Methods: We conducted a retrospective cohort study of 174 patients with early-stage TNBC who received the KEYNOTE-522 regimen (neoadjuvant pembrolizumab plus paclitaxel and carboplatin, followed by doxorubicin and cyclophosphamide) at a tertiary cancer center between August 2022 and July 2024. We assessed the primary endpoints, including pCR rate and event-free survival (EFS). We performed univariable and multivariable logistic regression analyses to identify independent predictors of pCR. Results: The median patient age was 50 years (range, 24–74 years). The clinical stages were II and III in 79.3% and 20.1% of patients, respectively, and 10.9% had clinical N3 disease. The overall pCR rate was 62.1%, and the N3 subgroup had a pCR rate of 47.4%. On multivariable analysis, high baseline Ki-67 expression (≥ median, 75%) was significantly associated with pCR (odds ratio, 2.84; 95% confidence interval, 1.45 to 5.66; p = 0.002). At a median followup of 18.4 months, the 12-month EFS rate was 97.4%, with significantly superior outcomes observed in patients who achieved pCR compared with those who did not achieve pCR (100% vs. 93.1%, p = 0.007). The treatment completion rate was 92.0%, and immune-related adverse events occurred in 13.8% of patients. Conclusion In this real-world analysis of one of the largest Asian cohorts of patients with earlystage TNBC treated with neoadjuvant pembrolizumab, the KEYNOTE-522 regimen demonstrated substantial efficacy and manageable toxicity, consistent with the original trial findings.

Objective: This study aimed to evaluate the survival of removable partial dentures (RPDs) abutment teeth that had undergone root canal treatment (RCT) and to identify the factors influencing survival. Materials and Methods: Records from the Veterans Health Service Medical Center were reviewed to identify patients who received RPDs between 2014 and 2015 and had root canal-treated abutment teeth. Preoperative variables included patient demographics, tooth location, and periapical radiolucency, while postoperative variables included RPD classification, opposing dentition, crown-root ratio (CRR), root canal filling quality, post placement, and restoration type. Statistical analysis was performed using the Kaplan-Meier method and Cox proportional hazards models. Results: A total of 776 root canal-treated abutment teeth from 341 patients using RPDs (mean age, 72.03 years) were included. In the multivariate analysis, tooth-related conditions such as arch type and tooth location, presence of a periapical lesion, and presence of a core were significantly associated with poor prognosis. Kaplan-Meier survival analysis revealed that the 3-, 5-, 7-, and 10-year survival rates for all teeth were 93.5%, 84.4%, 77.1%, and 60.0%, respectively. Conclusion Arch type and tooth position, preoperative periapical radiolucency, and type of restoration are significantly associated with prognosis in patients with RPDs in whom the abutment teeth have previously undergone RCT.

Purpose: This study evaluated the clinical outcomes and prognostic factors in patients with borderline resectable pancreatic cancer (BRPC) and locally advanced pancreatic cancer (LAPC) treated with upfront FOLFIRINOX followed by local-regional therapy (LRT), surgical resection (SR), and radiotherapy (RT). We aimed to identify specific patient subgroups for which RT may serve as a reasonable alternative to SR for local tumor control. Methods: We retrospectively analyzed 116 patients (SR group, n= 70; RT group, n= 46) at a single center between 2015 and 2020. Survival outcomes were compared based on LRT modalities, focusing on identifying subgroups in which RT provided an efficacy comparable to that of SR. Results: Among 116 patients, the SR group achieved a significantly higher 5-year overall survival (OS) than the RT group (27.1% vs. 8.7%, P< 0.0001), despite similar progression-free survival (P= 0.23). Significant prognostic factors for OS included carbohydrate antigen 19-9 (CA19-9) response in BRPC (P= 0.02) and radiologic partial response in LAPC (P= 0.05). Subgroup analysis revealed that, while SR provided a survival advantage in CA19-9 responders, no significant difference in OS was observed between SR and RT in CA19-9 non-responders (P= 0.37). Conclusion Although surgery remains the gold standard, RT may be considered a justifiable local alternative for CA19-9 non-responders and surgically ineligible patients with LAPC, yielding comparable outcomes in these specific, biologically unfavorable subgroups.