Background: Chromosomal alterations serve as diagnostic and prognostic markers in acute leukemia. Given the evolving landscape of chromosomal abnormalities in acute leukemia, we previously studied these over two periods. In this study, we investigated the frequency of these abnormalities and clinical trends in acute leukemia in Korea across three time periods. Methods: We retrospectively analyzed data from 1,787 patients with acute leukemia (319 children and 1,468 adults) diagnosed between 2006 and 2020. Conventional cytogenetics, FISH, and multiplex quantitative PCR were used for analysis. The patient groups were divided according to the following three study periods: 2006–2009 (I), 2010–2015 (II), and 2016–2020 (III). Results: Chromosomal aberrations were detected in 92% of patients. The PML::RARA translocation was the most frequent. Over the 15-yr period, chromosomal aberrations showed minimal changes, with specific fusion transcripts being common among patients.ALL was more prevalent in children than in adults and correlated significantly with the ETV6::RUNX1 and RUNX1::RUNX1T1 aberrations. The incidence of ALL increased during the three periods, with PML::RARA remaining common. Conclusions The frequency of chromosomal abnormalities in acute leukemia has changed subtly over time. Notably, the age of onset of adult AML has continuously increased. Our results may help in establishing diagnoses and clinical treatment strategies and developing various molecular diagnostic platforms.

Background: This study aimed to investigate changes in gene expression related to matrix synthesis in individuals with fullthickness rotator cuff tears (RCTs) and normal tendon tissues. The study also aimed to examine the differences in gene expression according to 4 distinct tear sizes. Methods: A total of 12 patients with full-thickness RCTs were included in the study, all of whom underwent arthroscopic rotator cuff repair. The RCTs were stratified by size into small, medium, large, and massive. Tendon samples were harvested from the midpoint between the lateral end of the torn tendon and the musculotendinous junction. Subsequent analysis of the tissue samples revealed the mRNA expression levels of 11 collagen types, 6 proteoglycans, and 8 glycoproteins through real-time polymerase chain reaction techniques. For control purposes, supraspinatus tendon tissue was sourced from 3 patients who had proximal humerus fractures but did not present with RCTs. Results: Among the 11 collagens and 14 non-collagenous protein (NCP) genes examined in this study, COL3A1 and COL10A1 showed a significant increase, whereas COL4A1 and COL14A1 showed a tendency to decrease compared to those in the normal group. ACAN significantly increased by 8.92-fold (p < 0.001) compared to that in the normal group, whereas DCN and LUM showed a tendency to decrease. FN1 and TNC increased significantly by 3.47-fold (p = 0.003) and 5.38-fold (p = 0.005), respectively, and the genes ELN, LAMA2, and THBS1 were all significantly reduced compared to those in the normal group. In the NCPs, almost all the genes with increased expression levels had the highest level in small size RCTs, and gene expression decreased as the size increased. The 3 proteoglycans (ACAN, BGN, and FMOD) showed the highest levels of expression in small size RCTs compared to those in the normal group, and 5 glycoproteins (COMP, FBN1, FN1, HAPLN1, and TNC) also showed the highest expression in small size RCTs. Conclusions We confirmed that most of the detected extracellular matrix gene expression changes were related to the size of the full-thickness RCTs. In NCPs, gene expression was increased in small-size tears, and gene expression levels were significantly reduced when the size increased.

Atopic dermatitis is the most common chronic inflammatory skin disease in children and adolescents. The Korean Academy of Pediatric Allergy and Respiratory Disease published the Atopic Dermatitis Treatment Guideline in 2008, which has been helpful in atopic dermatitis treatment until now. Various reports on the development and effectiveness of new drugs have suggested that there is a need to develop and revise old treatment guidelines. Part 1 aimed to provide evidence-based recommendations for skin care management and topical treatment for atopic dermatitis. Part 2 focuses on systemic treatment, novel therapeutics, and adjuvant therapy. The goal of this guideline is intended to assist front-line doctors treating pediatric and adolescent atopic dermatitis patients make safer, more effective, and more rational decisions regarding systemic treatment, novel therapeutics, and adjuvant therapy by providing evidence-based recommendations with a clear level of evidence and benefit regarding treatment.

Atopic dermatitis is the most common chronic inflammatory skin disease in children and adolescents. The Korean Academy of Pediatric Allergy and Respiratory Disease published the Atopic Dermatitis Treatment Guideline in 2008, which has been helpful in atopic dermatitis treatment until now. Various reports on the development and effectiveness of new drugs have suggested that there is a need to develop and revise old treatment guidelines. Part 1 aimed to provide evidence-based recommendations for skin care management and topical treatment for atopic dermatitis. Part 2 focuses on systemic treatment, novel therapeutics, and adjuvant therapy. The goal of this guideline is intended to assist front-line doctors treating pediatric and adolescent atopic dermatitis patients make safer, more effective, and more rational decisions regarding systemic treatment, novel therapeutics, and adjuvant therapy by providing evidence-based recommendations with a clear level of evidence and benefit regarding treatment.

Methods: The UBE approach targeted the ventral part of the superior articular process in the transforaminal UBE setup, specifically for upper lumbar disc herniation, with an approach angle of approximately 30º on the axial plane. Intraoperative navigation was employed to improve puncture accuracy for this relatively unfamiliar surgical technique. Navigation-assisted transforaminal UBE lumbar discectomy was performed on four patients presenting with back or leg discomfort due to disc herniation at the L1–L2 or L2–L3 levels. Results: All patients experienced symptom relief and were discharged on postoperative day 2. Conclusions Transforaminal UBE lumbar discectomy is a viable therapeutic option for upper lumbar paracentral disc herniation, which is typically associated with poor prognosis. Integrating navigation integration into this novel approach enhances precision and safety.

Purpose: Cancer poses a significant global health challenge, demanding precise genomic testing for individualized treatment strategies. Targeted-panel sequencing (TPS) has improved personalized oncology but often lacks comprehensive coverage of crucial cancer alterations. Whole-genome sequencing (WGS) addresses this gap, offering extensive genomic testing. This study demonstrates the medical potential of WGS. Materials and Methods: This study evaluates target-enhanced WGS (TE-WGS), a clinical-grade WGS method sequencing both cancer and matched normal tissues. Forty-nine patients with various solid cancer types underwent both TE-WGS and TruSight Oncology 500 (TSO500), one of the mainstream TPS approaches. Results: TE-WGS detected all variants reported by TSO500 (100%, 498/498). A high correlation in variant allele fractions was observed between TE-WGS and TSO500 (r=0.978). Notably, 223 variants (44.8%) within the common set were discerned exclusively by TE-WGS in peripheral blood, suggesting their germline origin. Conversely, the remaining subset of 275 variants (55.2%) were not detected in peripheral blood using the TE-WGS, signifying them as bona fide somatic variants. Further, TE-WGS provided accurate copy number profiles, fusion genes, microsatellite instability, and homologous recombination deficiency scores, which were essential for clinical decision-making. Conclusion TE-WGS is a comprehensive approach in personalized oncology, matching TSO500’s key biomarker detection capabilities. It uniquely identifies germline variants and genomic instability markers, offering additional clinical actions. Its adaptability and cost-effectiveness underscore its clinical utility, making TE-WGS a valuable tool in personalized cancer treatment.

Purpose: This study aims to evaluate the treatment approaches and locoregional patterns for adenoid cystic carcinoma (ACC) in the breast, which is an uncommon malignant tumor with limited clinical data. Materials and Methods: A total of 93 patients diagnosed with primary ACC in the breast between 1992 and 2022 were collected from multi-institutions. All patients underwent surgical resection, including breast-conserving surgery (BCS) or total mastectomy (TM). Recurrence patterns and locoregional recurrence-free survival (LRFS) were assessed. Results: Seventy-five patients (80.7%) underwent BCS, and 71 of them (94.7%) received post-operative radiation therapy (PORT). Eighteen patients (19.3%) underwent TM, with five of them (27.8%) also receiving PORT. With a median follow-up of 50 months, the LRFS rate was 84.2% at 5 years. Local recurrence (LR) was observed in five patients (5.4%) and four cases (80%) of the LR occurred in the tumor bed. Three of LR (3/75, 4.0%) had a history of BCS and PORT, meanwhile, two of LR (2/18, 11.1%) had a history of mastectomy. Regional recurrence occurred in two patients (2.2%), and both cases had a history of PORT with (n=1) and without (n=1) irradiation of the regional lymph nodes. Partial breast irradiation (p=0.35), BCS (p=0.96) and PORT in BCS group (p=0.33) had no significant association with LRFS. Conclusion BCS followed by PORT was the predominant treatment approach for ACC of the breast and LR mostly occurred in the tumor bed. The findings of this study suggest that partial breast irradiation might be considered for PORT in primary breast ACC.

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: This study aimed to investigate changes in gene expression related to matrix synthesis in individuals with fullthickness rotator cuff tears (RCTs) and normal tendon tissues. The study also aimed to examine the differences in gene expression according to 4 distinct tear sizes. Methods: A total of 12 patients with full-thickness RCTs were included in the study, all of whom underwent arthroscopic rotator cuff repair. The RCTs were stratified by size into small, medium, large, and massive. Tendon samples were harvested from the midpoint between the lateral end of the torn tendon and the musculotendinous junction. Subsequent analysis of the tissue samples revealed the mRNA expression levels of 11 collagen types, 6 proteoglycans, and 8 glycoproteins through real-time polymerase chain reaction techniques. For control purposes, supraspinatus tendon tissue was sourced from 3 patients who had proximal humerus fractures but did not present with RCTs. Results: Among the 11 collagens and 14 non-collagenous protein (NCP) genes examined in this study, COL3A1 and COL10A1 showed a significant increase, whereas COL4A1 and COL14A1 showed a tendency to decrease compared to those in the normal group. ACAN significantly increased by 8.92-fold (p < 0.001) compared to that in the normal group, whereas DCN and LUM showed a tendency to decrease. FN1 and TNC increased significantly by 3.47-fold (p = 0.003) and 5.38-fold (p = 0.005), respectively, and the genes ELN, LAMA2, and THBS1 were all significantly reduced compared to those in the normal group. In the NCPs, almost all the genes with increased expression levels had the highest level in small size RCTs, and gene expression decreased as the size increased. The 3 proteoglycans (ACAN, BGN, and FMOD) showed the highest levels of expression in small size RCTs compared to those in the normal group, and 5 glycoproteins (COMP, FBN1, FN1, HAPLN1, and TNC) also showed the highest expression in small size RCTs. Conclusions We confirmed that most of the detected extracellular matrix gene expression changes were related to the size of the full-thickness RCTs. In NCPs, gene expression was increased in small-size tears, and gene expression levels were significantly reduced when the size increased.

Background: This study aimed to investigate changes in gene expression related to matrix synthesis in individuals with fullthickness rotator cuff tears (RCTs) and normal tendon tissues. The study also aimed to examine the differences in gene expression according to 4 distinct tear sizes. Methods: A total of 12 patients with full-thickness RCTs were included in the study, all of whom underwent arthroscopic rotator cuff repair. The RCTs were stratified by size into small, medium, large, and massive. Tendon samples were harvested from the midpoint between the lateral end of the torn tendon and the musculotendinous junction. Subsequent analysis of the tissue samples revealed the mRNA expression levels of 11 collagen types, 6 proteoglycans, and 8 glycoproteins through real-time polymerase chain reaction techniques. For control purposes, supraspinatus tendon tissue was sourced from 3 patients who had proximal humerus fractures but did not present with RCTs. Results: Among the 11 collagens and 14 non-collagenous protein (NCP) genes examined in this study, COL3A1 and COL10A1 showed a significant increase, whereas COL4A1 and COL14A1 showed a tendency to decrease compared to those in the normal group. ACAN significantly increased by 8.92-fold (p < 0.001) compared to that in the normal group, whereas DCN and LUM showed a tendency to decrease. FN1 and TNC increased significantly by 3.47-fold (p = 0.003) and 5.38-fold (p = 0.005), respectively, and the genes ELN, LAMA2, and THBS1 were all significantly reduced compared to those in the normal group. In the NCPs, almost all the genes with increased expression levels had the highest level in small size RCTs, and gene expression decreased as the size increased. The 3 proteoglycans (ACAN, BGN, and FMOD) showed the highest levels of expression in small size RCTs compared to those in the normal group, and 5 glycoproteins (COMP, FBN1, FN1, HAPLN1, and TNC) also showed the highest expression in small size RCTs. Conclusions We confirmed that most of the detected extracellular matrix gene expression changes were related to the size of the full-thickness RCTs. In NCPs, gene expression was increased in small-size tears, and gene expression levels were significantly reduced when the size increased.