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: The increasing rate of excess body weight (EBW) in the global population has led to growing health concerns, including cancer-related EBW. We aimed to estimate the population attributable fraction (PAF) of cancer incidence and deaths linked to EBW in Korean individuals from 2015 to 2030 and to compare its value with various body mass index cutoffs. Methods: Levin’s formula was used to calculate the PAF; the prevalence rates were computed using the Korean National Health and Nutrition Examination Survey data, while the relative risks of specific cancers related to EBW were estimated based on the results of Korean cohort studies. To account for the 15-year latency period when estimating the PAF in 2020, the prevalence rates from 2015 and attributable cases or deaths from 2020 were used. Results: The PAF attributed to EBW was similar for both cancer incidence and deaths using either the World Health Organization (WHO) Asian-Pacific region standard or a modified Asian standard, with the WHO standard yielding the lowest values. In the Korean population, the PAFs of EBW for cancer incidence were 2.96% in men and 3.61% in women, while those for cancer deaths were 0.67% in men and 3.06% in women in 2020. Additionally, PAFs showed a gradual increase in both sexes until 2030. Conclusion The EBW continues to have a significant impact on cancer incidence and deaths in Korea. Effective prevention strategies targeting the reduction of this modifiable risk factor can substantially decrease the cancer burden.

Background: The increasing rate of excess body weight (EBW) in the global population has led to growing health concerns, including cancer-related EBW. We aimed to estimate the population attributable fraction (PAF) of cancer incidence and deaths linked to EBW in Korean individuals from 2015 to 2030 and to compare its value with various body mass index cutoffs. Methods: Levin’s formula was used to calculate the PAF; the prevalence rates were computed using the Korean National Health and Nutrition Examination Survey data, while the relative risks of specific cancers related to EBW were estimated based on the results of Korean cohort studies. To account for the 15-year latency period when estimating the PAF in 2020, the prevalence rates from 2015 and attributable cases or deaths from 2020 were used. Results: The PAF attributed to EBW was similar for both cancer incidence and deaths using either the World Health Organization (WHO) Asian-Pacific region standard or a modified Asian standard, with the WHO standard yielding the lowest values. In the Korean population, the PAFs of EBW for cancer incidence were 2.96% in men and 3.61% in women, while those for cancer deaths were 0.67% in men and 3.06% in women in 2020. Additionally, PAFs showed a gradual increase in both sexes until 2030. Conclusion The EBW continues to have a significant impact on cancer incidence and deaths in Korea. Effective prevention strategies targeting the reduction of this modifiable risk factor can substantially decrease the cancer burden.

Background: We aimed to investigate the characteristics of pediatric ulcerative colitis (UC) at diagnosis in Korea. Methods: This was a multicenter, registry-based, inception cohort study conducted in Korea between 2021 and 2023. Children and adolescents newly diagnosed with UC < 18 years were included. Baseline clinicodemographics, results from laboratory, endoscopic exams, and Paris classification factors were collected, and associations between factors at diagnosis were investigated. Results: A total 205 patients with UC were included. Male-to-female ratio was 1.59:1, and the median age at diagnosis was 14.7 years (interquartile range 11.9–16.2). Disease extent of E1 comprised 12.2% (25/205), E2 24.9% (51/205), E3 11.2% (23/205), and E4 51.7% (106/205) of the patients. S1 comprised 13.7% (28/205) of the patients. The proportion of patients with a disease severity of S1 was significantly higher in patients with E4 compared to the other groups (E1: 0% vs. E2: 2% vs. E3: 0% vs. E4: 24.5%, P < 0.001). Significant differences between disease extent groups were also observed in Pediatric Ulcerative Colitis Activity Index (median 25 vs. 35 vs. 40 vs. 45, respectively, P < 0.001), hemoglobin (median 13.5 vs.13.2 vs. 11.6 vs. 11.4 g/dL, respectively, P < 0.001), platelet count (median 301 vs. 324 vs. 372 vs. 377 × 103 /μL, respectively, P = 0.001), C-reactive protein (median 0.05 vs. 0.10 vs. 0.17 vs. 0.38 mg/dL, respectively, P < 0.001), and Ulcerative Colitis Endoscopic Index of Severity (median 4 vs. 4 vs. 4 vs. 5, respectively, P = 0.006). No significant differences were observed in factors between groups divided according to sex and diagnosis age. Conclusion This study represents the largest multicenter pediatric inflammatory bowel disease cohort in Korea. Disease severity was associated with disease extent in pediatric patients with UC at diagnosis.

Background: We aimed to investigate the characteristics of pediatric ulcerative colitis (UC) at diagnosis in Korea. Methods: This was a multicenter, registry-based, inception cohort study conducted in Korea between 2021 and 2023. Children and adolescents newly diagnosed with UC < 18 years were included. Baseline clinicodemographics, results from laboratory, endoscopic exams, and Paris classification factors were collected, and associations between factors at diagnosis were investigated. Results: A total 205 patients with UC were included. Male-to-female ratio was 1.59:1, and the median age at diagnosis was 14.7 years (interquartile range 11.9–16.2). Disease extent of E1 comprised 12.2% (25/205), E2 24.9% (51/205), E3 11.2% (23/205), and E4 51.7% (106/205) of the patients. S1 comprised 13.7% (28/205) of the patients. The proportion of patients with a disease severity of S1 was significantly higher in patients with E4 compared to the other groups (E1: 0% vs. E2: 2% vs. E3: 0% vs. E4: 24.5%, P < 0.001). Significant differences between disease extent groups were also observed in Pediatric Ulcerative Colitis Activity Index (median 25 vs. 35 vs. 40 vs. 45, respectively, P < 0.001), hemoglobin (median 13.5 vs.13.2 vs. 11.6 vs. 11.4 g/dL, respectively, P < 0.001), platelet count (median 301 vs. 324 vs. 372 vs. 377 × 103 /μL, respectively, P = 0.001), C-reactive protein (median 0.05 vs. 0.10 vs. 0.17 vs. 0.38 mg/dL, respectively, P < 0.001), and Ulcerative Colitis Endoscopic Index of Severity (median 4 vs. 4 vs. 4 vs. 5, respectively, P = 0.006). No significant differences were observed in factors between groups divided according to sex and diagnosis age. Conclusion This study represents the largest multicenter pediatric inflammatory bowel disease cohort in Korea. Disease severity was associated with disease extent in pediatric patients with UC at diagnosis.

Background: The increasing rate of excess body weight (EBW) in the global population has led to growing health concerns, including cancer-related EBW. We aimed to estimate the population attributable fraction (PAF) of cancer incidence and deaths linked to EBW in Korean individuals from 2015 to 2030 and to compare its value with various body mass index cutoffs. Methods: Levin’s formula was used to calculate the PAF; the prevalence rates were computed using the Korean National Health and Nutrition Examination Survey data, while the relative risks of specific cancers related to EBW were estimated based on the results of Korean cohort studies. To account for the 15-year latency period when estimating the PAF in 2020, the prevalence rates from 2015 and attributable cases or deaths from 2020 were used. Results: The PAF attributed to EBW was similar for both cancer incidence and deaths using either the World Health Organization (WHO) Asian-Pacific region standard or a modified Asian standard, with the WHO standard yielding the lowest values. In the Korean population, the PAFs of EBW for cancer incidence were 2.96% in men and 3.61% in women, while those for cancer deaths were 0.67% in men and 3.06% in women in 2020. Additionally, PAFs showed a gradual increase in both sexes until 2030. Conclusion The EBW continues to have a significant impact on cancer incidence and deaths in Korea. Effective prevention strategies targeting the reduction of this modifiable risk factor can substantially decrease the cancer burden.

Background: We aimed to investigate the characteristics of pediatric ulcerative colitis (UC) at diagnosis in Korea. Methods: This was a multicenter, registry-based, inception cohort study conducted in Korea between 2021 and 2023. Children and adolescents newly diagnosed with UC < 18 years were included. Baseline clinicodemographics, results from laboratory, endoscopic exams, and Paris classification factors were collected, and associations between factors at diagnosis were investigated. Results: A total 205 patients with UC were included. Male-to-female ratio was 1.59:1, and the median age at diagnosis was 14.7 years (interquartile range 11.9–16.2). Disease extent of E1 comprised 12.2% (25/205), E2 24.9% (51/205), E3 11.2% (23/205), and E4 51.7% (106/205) of the patients. S1 comprised 13.7% (28/205) of the patients. The proportion of patients with a disease severity of S1 was significantly higher in patients with E4 compared to the other groups (E1: 0% vs. E2: 2% vs. E3: 0% vs. E4: 24.5%, P < 0.001). Significant differences between disease extent groups were also observed in Pediatric Ulcerative Colitis Activity Index (median 25 vs. 35 vs. 40 vs. 45, respectively, P < 0.001), hemoglobin (median 13.5 vs.13.2 vs. 11.6 vs. 11.4 g/dL, respectively, P < 0.001), platelet count (median 301 vs. 324 vs. 372 vs. 377 × 103 /μL, respectively, P = 0.001), C-reactive protein (median 0.05 vs. 0.10 vs. 0.17 vs. 0.38 mg/dL, respectively, P < 0.001), and Ulcerative Colitis Endoscopic Index of Severity (median 4 vs. 4 vs. 4 vs. 5, respectively, P = 0.006). No significant differences were observed in factors between groups divided according to sex and diagnosis age. Conclusion This study represents the largest multicenter pediatric inflammatory bowel disease cohort in Korea. Disease severity was associated with disease extent in pediatric patients with UC at diagnosis.

Background: The increasing rate of excess body weight (EBW) in the global population has led to growing health concerns, including cancer-related EBW. We aimed to estimate the population attributable fraction (PAF) of cancer incidence and deaths linked to EBW in Korean individuals from 2015 to 2030 and to compare its value with various body mass index cutoffs. Methods: Levin’s formula was used to calculate the PAF; the prevalence rates were computed using the Korean National Health and Nutrition Examination Survey data, while the relative risks of specific cancers related to EBW were estimated based on the results of Korean cohort studies. To account for the 15-year latency period when estimating the PAF in 2020, the prevalence rates from 2015 and attributable cases or deaths from 2020 were used. Results: The PAF attributed to EBW was similar for both cancer incidence and deaths using either the World Health Organization (WHO) Asian-Pacific region standard or a modified Asian standard, with the WHO standard yielding the lowest values. In the Korean population, the PAFs of EBW for cancer incidence were 2.96% in men and 3.61% in women, while those for cancer deaths were 0.67% in men and 3.06% in women in 2020. Additionally, PAFs showed a gradual increase in both sexes until 2030. Conclusion The EBW continues to have a significant impact on cancer incidence and deaths in Korea. Effective prevention strategies targeting the reduction of this modifiable risk factor can substantially decrease the cancer burden.

Background: We aimed to investigate the characteristics of pediatric ulcerative colitis (UC) at diagnosis in Korea. Methods: This was a multicenter, registry-based, inception cohort study conducted in Korea between 2021 and 2023. Children and adolescents newly diagnosed with UC < 18 years were included. Baseline clinicodemographics, results from laboratory, endoscopic exams, and Paris classification factors were collected, and associations between factors at diagnosis were investigated. Results: A total 205 patients with UC were included. Male-to-female ratio was 1.59:1, and the median age at diagnosis was 14.7 years (interquartile range 11.9–16.2). Disease extent of E1 comprised 12.2% (25/205), E2 24.9% (51/205), E3 11.2% (23/205), and E4 51.7% (106/205) of the patients. S1 comprised 13.7% (28/205) of the patients. The proportion of patients with a disease severity of S1 was significantly higher in patients with E4 compared to the other groups (E1: 0% vs. E2: 2% vs. E3: 0% vs. E4: 24.5%, P < 0.001). Significant differences between disease extent groups were also observed in Pediatric Ulcerative Colitis Activity Index (median 25 vs. 35 vs. 40 vs. 45, respectively, P < 0.001), hemoglobin (median 13.5 vs.13.2 vs. 11.6 vs. 11.4 g/dL, respectively, P < 0.001), platelet count (median 301 vs. 324 vs. 372 vs. 377 × 103 /μL, respectively, P = 0.001), C-reactive protein (median 0.05 vs. 0.10 vs. 0.17 vs. 0.38 mg/dL, respectively, P < 0.001), and Ulcerative Colitis Endoscopic Index of Severity (median 4 vs. 4 vs. 4 vs. 5, respectively, P = 0.006). No significant differences were observed in factors between groups divided according to sex and diagnosis age. Conclusion This study represents the largest multicenter pediatric inflammatory bowel disease cohort in Korea. Disease severity was associated with disease extent in pediatric patients with UC at diagnosis.

Background/Aims: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression. Methods: Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD. Results: After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort. Conclusions We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.