The initial molecular cytogenetic characteristics of blasts plays a significant role in determining the treatment course of B-cell acute lymphoblastic leukemia (B-ALL).B-ALL with intrachromosomal amplification of chromosome 21 (iAMP21) has been well known to have unfavorable prognosis. Also, there are previously recognized germline mutations that increase the risk of ALL, such as trisomy 21, Down syndrome. This case report is about a 16-year-old girl who presented with lymphadenitis, purpura, and fever followed by initial lab of elevated white blood cell with blasts.She had some notable facial features, but no typical Down syndrome related one.Bone marrow biopsy and fluorescence in situ hybridization finalized the diagnosis as B-ALL with iAMP21, high-risk group. The minimal residual disease-negative complete remission was achieved after the induction chemotherapy with Korean multicenter high-risk protocol. However, abnormal karyotype was sustained in bone marrow. Microarrays with her buccal swab raised the possibility that the abnormal karyotype was not from the leukemic blasts but rather from the germline. Although she underwent scheduled chemotherapy uneventfully as slow early responder type, thrombocytopenia and abnormal karyotype persisted, leading to the diagnosis of acute myeloid leukemia. Additional chemotherapy and peripheral blood stem cell transplantation was performed which resulted in engraftment. This case highlights the discovery of a constitutional genetic aberration, which played like a silent yet critical background factor for B-ALL with iAMP21. As the number of reported cases are limited, the role of germline chromosome 21 mutation as the indicator for prognosis of B-ALL should be studied further.

Background: Strain elastography (SE) and shear wave elastography (SWE) are emerging techniques for evaluating the elasticity of soft tissue. This study aimed to determine interobserver and intraobserver reliability for elasticity measurements of different tissues and anatomic locations using SE and SWE. Methods: Ten healthy adult male individuals with 20 upper extremities participated in this study. The elasticities of the wrist extensor muscle, the common extensor tendon, and supraspinatus tendon were measured. Strain ratio and shear wave velocity were measured twice by 2 different examiners (examiner 1 with over 20 years of experience in musculoskeletal sonography and examiner 2 with 1 year of experience). Interobserver and intraobserver reliability was assessed using the intraclass correlation coefficient (ICC). Results: The 10 individuals’ age ranged from 28 to 35 years. In SE, interobserver reliabilities at the 3 anatomic locations (wrist extensor muscle, common extensor tendon, and supraspinatus tendon) showed fair to moderate agreement (ICC = 0.489, p = 0.076;ICC = 0.408, p = 0.131; and ICC = 0.296, p = 0.711, respectively). The intraobserver reliabilities of examiner 1 were moderate to substantial only at the wrist extensor muscle and the common extensor tendon (ICC = 0.563, p = 0.039 and ICC = 0.702, p = 0.006, respectively). In SWE, interobserver reliabilities for the wrist extensor muscle and the supraspinatus tendon were moderate to substantial (ICC = 0.756, p = 0.002 and ICC = 0.565, p = 0.039, respectively). The intraobserver reliabilities of examiner 1 at the 3 anatomic locations were almost perfect (ICC = 0.843, p = 0.001; ICC = 0.800, p = 0.001; and ICC = 0.825, p = 0.001, respectively).The results of examiner 2 showed almost perfect agreement at the wrist extensor muscle (ICC = 0.886, p = 0.001) and moderate to substantial agreement at the tendons of the common extensor and supraspinatus (ICC = 0.592, p = 0.029 and ICC = 0.682, p = 0.008, respectively). Conclusions SWE is a reliable method for assessing the flexibility of soft tissue, but it is affected by expertise and the specific anatomical site.

Background/Aims: Inaccurate prediction of lymph node metastasis (LNM) may lead to unnecessary surgery following endoscopic resection of T1 colorectal cancer (CRC). We aimed to validate the usefulness of artificial intelligence (AI) models for predicting LNM in patients with T1 CRC. Methods: We analyzed the clinical data, laboratory results, pathological reports, and endoscopic findings of patients who underwent radical surgery for T1 CRC. We developed AI models to predict LNM using four algorithms: regularized logistic regression classifier (RLRC), random forest classifier (RFC), CatBoost classifier (CBC), and the voting classifier (VC). Four histological factors and four endoscopic findings were included to develop AI models. Areas under the receiver operating characteristics curves (AUROCs) were measured to distinguish AI model performance in accordance with the Japanese Society for Cancer of the Colon and Rectum guidelines. Results: Among 1,386 patients with T1 CRC, 173 patients (12.5%) had LNM. The AUROC values of the RLRC, RFC, CBC, and VC models for LNM prediction were significantly higher (0.673, 0.640, 0.679, and 0.677, respectively) than the 0.525 suggested in accordance with the Japanese Society for Cancer of the Colon and Rectum guidelines (vs RLRC, p<0.001; vs RFC, p=0.001; vs CBC, p<0.001; vs VC, p<0.001). The AUROC value was similar between T1 colon versus T1 rectal cancers (0.718 vs 0.615, p=0.700). The AUROC value was also similar between the initial endoscopic resection and initial surgery groups (0.581 vs 0.746, p=0.845). Conclusions AI models trained on the basis of endoscopic findings and pathological features performed well in predicting LNM in patients with T1 CRC regardless of tumor location and initial treatment method.

Background/Aims: Early colorectal cancer (ECC) is commonly resected endoscopically. Perforation is a devastating complication of endoscopic resection. We aimed to identify the characteristics and predictive risk factors for perforation related to endoscopic resection of ECC. Methods: This nationwide retrospective multicenter study included patients with ECC who underwent endoscopic resection. We investigated the demographics, endoscopic findings at the time of treatment, and histopathological characteristics of the resected specimens. Logistic regression analysis was used to investigate the clinical factors associated with procedure-related perforations. Survival analysis was conducted to assess the impact of perforation on the overall survival of patients with ECC. Results: This study included 965 participants with a mean age of 63.4 years. The most common endoscopic treatment was conventional endoscopic mucosal resection (n=573, 59.4%), followed by conventional endoscopic submucosal dissection (n=259, 26.8%). Thirty-three patients (3.4%) experienced perforations, most of which were managed endoscopically (n=23/33, 69.7%). Patients who undergo endoscopic submucosal dissection-hybrid and precut endoscopic mucosal resection have a higher risk of perforation than those who undergo conventional endoscopic mucosal resection (odds ratio, 78.65 and 39.72, p<0.05). Procedure-related perforations were not associated with patient survival. Conclusions Perforation after endoscopic resection had no significant impact on the prognosis of ECC. The type of endoscopic resection was a crucial predictor of perforation. Large-scale prospective studies are needed to further investigate endoscopic resection of ECC.

Background/Aims: Fibronectin (FN) has recently been identified as being overexpressed in patients with hepatocellular carcinoma (HCC) and deemed a promising biomarker of vascular invasion. The aim of this study was to examine the patterns of FN expression in HCC cells and their clinicopathological significance, such as their association with vascular invasion and angiogenesis patterns. Methods: Immunohistochemical analysis of FN was conducted using tissue microarrays from 258 surgically resected HCCs and matched nontumorous liver tissues. Three distinct FN expression patterns were observed: cytoplasmic, membranous, and sinusoidal. Moderate or strong expression was considered FN-positive. Results: Cytoplasmic or sinusoidal FN expression was significantly more common in HCC cells than in the adjacent liver tissue (p<0.001). FN expression was detected in the membranes of HCC cells and absent in nonneoplastic hepatocytes (p<0.001). Overall survival and disease-free survival in patients with HCC cells with membranous FN expression were significantly shorter than those in patients without membranous FN expression. Membranous FN expression in HCC was significantly associated with high serum alpha-fetoprotein (AFP) and protein induced by vitamin K absenceII (PIVKA-II) levels, infiltrative gross type, poor Edmondson-Steiner grade, major vessel invasion, microvascular invasion, macrotrabecular massive subtype, advanced T stage, and vessel-encapsulating tumor cluster pattern. Sinusoidal pattern of FN expression in HCC was significantly associated with high serum AFP and PIVKA-II levels, infiltrative gross type, large tumor size, microvascular invasion, macrotrabecular massive subtype, and vessel-encapsulating tumor cluster patterns. Conclusions Evaluating FN expression in HCC cells may be useful for identifying aggressive cases of HCC with vascular invasion via biopsy.

Background/Aims: The prognostic value of serial 18F-fluorodeoxyglucose positron emission tomography/computed tomography ( 18F-FDG PET/CT) for patients with borderline resectable or locally advanced pancreatic cancer who undergo conversion surgery or continue chemotherapy without surgery has not been well-established. Methods: A retrospective analysis of patients with pancreatic ductal adenocarcinoma was conducted at Seoul National University Bundang Hospital between March 2013 and February 2022.Patients underwent PET/CT at baseline and subsequent radiologic evaluations following chemotherapy. Changes in the maximum standardized uptake value (SUVmax), mean standardized uptake value (SUVmean), metabolic tumor volume, and total lesion glycolysis were analyzed.Based on their treatment regimens, patients were stratified into the conversion surgery group or nonconversion surgery group. Survival outcomes and various clinical factors were assessed. Results: Among 121 patients, 52 underwent conversion surgery, and 69 continued to receive chemotherapy without surgery. A significant reduction in the SUVmax was correlated with prolonged recurrence-free survival and overall survival in the conversion surgery group. Confirmation of a pathologic response indicated a significant association between reductions in the SUVmax and positive outcomes. Reductions in the metabolic tumor volume and total lesion glycolysis were associated with improved progression-free survival and overall survival in the nonconversion surgery group. Conclusions Serial PET/CT scans demonstrated prognostic value in pancreatic ductal adenocarcinoma patients, revealing distinct correlations in the conversion surgery group and nonconversion surgery group.

Background/Aims: The study investigated the incidence, risk factors, and clinical outcomes of chronic antibiotic-refractory pouchitis (CARP) in Korean patients with ulcerative colitis (UC). Methods: This single-center retrospective study included patients with UC who underwent total proctocolectomy with ileal pouch-anal anastomosis at the Asan Medical Center in Korea between January 1987 and December 2022. The primary outcomes were endoscopic remission and pouch failure. The Cox’s proportional hazard model was used to identify the risk factors for CARP. Results: The clinical data of 232 patients were analyzed. The most common cause of surgery was steroid refractoriness (50.9%), followed by dysplasia/colorectal cancer (26.7%). Among 74 patients (31.9%) with chronic pouchitis (CP), 31 (13.4%) had CARP, and 43 (18.5%) had chronic antibiotic-dependent pouchitis (CADP). The most frequent endoscopic phenotype was focal inflammation of the pouch (CP, 47.3%; CARP, 35.5%; CADP, 55.8%). Patients with CARP were less likely to use concomitant probiotics than patients with CADP (29.0% vs 72.1%, p<0.01). The endoscopic remission rate of CP, CARP, and CADP was 14.9%, 9.7%, and 18.6%, respectively.The pouch failure rate associated with CP, CARP, and CADP was 13.5%, 16.1%, and 11.6%, respectively. Current smoking status (adjusted hazard ratio [aHR], 2.96; 95% confidence interval [CI], 1.27 to 6.90; p=0.01) and previous use of biologics/small molecules (aHR, 2.40; 95% CI, 1.05 to 5.53; p=0.04) were significantly associated with CARP development. Conclusions UC patients who were current smokers and previously used biologics/small molecules had a higher risk of developing CARP. Concomitant use of probiotics was less likely to be associated with CARP development.

The impact of Streptococcus pneumoniae coinfection on coronavirus disease 2019 (COVID-19) prognosis remains uncertain. We conducted a retrospective analysis of patients hospitalized with COVID-19 who underwent a pneumococcal urinary antigen (PUA) test to assess its clinical utility. Results showed that PUA-positive patients required more oxygen support, high-flow nasal cannula, and dexamethasone compared to PUA-negative patients.Furthermore, the significantly higher incidence of a National Early Warning Score ≥5 in the PUA-positive group (P<0.001) suggests that a positive PUA test is associated with a severe disease course. However, no significant difference in mortality was observed between the two groups, and antibiotics were used in almost all patients (96.2%). While the PUA test may help guide antibiotic use in COVID-19 patients, its interpretation should be approached with caution.

Thymic diseases such as thymic hyperplasia, thymic cysts, thymoma, and thymic carcinoma are common causes of mediastinal masses that present with diverse clinical and radiological features. Magnetic resonance imaging (MRI) is a pivotal tool for evaluating thymic pathologies as it offers superior soft-tissue contrast and has the ability to distinguish between benign and malignant lesions. Thymic MRI protocols include T1- and T2-weighted imaging, diffusion-weighted MRI (DW-MRI) with apparent diffusion coefficient mapping, and contrast-enhanced MRI (CE-MRI), each offering unique diagnostic insights into the composition and behavior of thymic lesions. However, interpreting MRI findings in thymic diseases may present challenges. Thymic cysts containing hemorrhage or proteinaceous material may mimic solid lesions owing to altered signal intensities, necessitating DW-MRI and CE-MRI for accurate differentiation. Small thymic lesions, particularly those <1 cm in diameter, are susceptible to signal distortion and partial volume effects, complicating their detection and characterization. Furthermore, respiratory and cardiac motion artifacts can degrade the image quality and obscure important diagnostic details, especially in lesions near the heart and lungs. Despite these challenges, MRI remains a critical imaging modality for assessing and managing thymic diseases, offering detailed tissue characterization. Interpretive pitfalls and technical limitations underscore the importance of employing optimized imaging protocols and expert analyses to ensure diagnostic accuracy and guide appropriate clinical decision-making.