1.Chromosomal Rearrangements in 1,787 Cases of Acute Leukemia in Korea over 15 Years
DongGeun SON ; Ho Cheol JANG ; Young Eun LEE ; Yong Jun CHOI ; Joo Heon PARK ; Ha Jin LIM ; Hyun-Jung CHOI ; Hee Jo BAEK ; Hoon KOOK ; Mihee KIM ; Ga-Young SONG ; Seo-Yeon AHN ; Sung-Hoon JUNG ; Deok-Hwan YANG ; Je-Jung LEE ; Hyeonug-Joon KIM ; Jae-Sook AHN ; Myung-Geun SHIN
Annals of Laboratory Medicine 2025;45(4):391-398
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.
2.First-in-Human Evaluation of a Polymer-Free Everolimus-Eluting Stent Using a Titanium Dioxide Film
Doo Sun SIM ; Kyung Hoon CHO ; Dae Young HYUN ; Dae Sung PARK ; Jun-Kyu PARK ; Dae-Heung BYEON ; Won-Il JO ; Sang-Wook KIM ; Joon Ho AHN ; Seung Hun LEE ; Min Chul KIM ; Young Joon HONG ; Ju Han KIM ; Youngkeun AHN ; Myung Ho JEONG
Journal of Korean Medical Science 2024;39(33):e234-
Background:
In patients with coronary artery disease treated with permanent polymercoated drug-eluting stents (DES), the persistent presence of a less biocompatible polymer might delay arterial healing. Thin strut polymer-free DES have the potential to improve clinical outcomes and reduce the duration of dual antiplatelet therapy (DAPT). The purpose of this first-in-human study was to assess the safety and effectiveness of a novel polymer-free DES in patients with de novo coronary lesions. The TIGERevolutioN® stent (CG Bio Co., Ltd., Seoul, Korea) consists of a cobalt chromium platform with a strut thickness of 70 μm and a surface treated with titanium dioxide onto which everolimus-eluting stent (EES) is applied abluminally (6 µg/mm of stent length) without utilization of a polymer.
Methods:
A total of 20 patients were enrolled, with de novo coronary lesions (stable or unstable angina) and > 50% diameter stenosis in a vessel 2.25 to 4.00 mm in diameter and ≤ 40 mm in length for angiographic, optical coherence tomography (OCT), and clinical assessment at 8 months. All patients received DAPT after stent implantation. The primary endpoint was angiographic in-stent late lumen loss (LLL) at 8 months.
Results:
Twenty patients with 20 lesions were treated with TIGERevolutioN® . At 8 months, in-stent LLL was 0.7 ± 0.4 mm. On OCT, percent area stenosis was 29.2 ± 9.4% and stent strut coverage was complete in all lesions. No adverse cardiovascular event occurred at 8 months.
Conclusion
The new polymer-free EES was safe and effective with low LLL and excellent strut coverage at 8 months of follow-up.
3.The Impact of Obesity on Kidney Disease: Observational Cohort Study Analyzing 14,492 Kidney Biopsy Cases
Tae-Bum KIM ; Shin Young AHN ; Jieun OH ; Eun Hui BAE ; Ho Jun CHIN ; Myung-Gyu KIM ; Sang Kyung JO ; Won Yong CHO ; Se Won OH
Journal of Korean Medical Science 2024;39(3):e12-
Background:
The obesity epidemic is associated with the emergence of new kidney diseases including obesity-related glomerulopathy (ORG) and metabolic syndrome-associated disorders. However, the effects of obesity on prevalence and outcome of biopsy-proven kidney disease are not well known.
Methods:
We analyzed 14,492 kidney biopsies in 18 hospitals from 1979 to 2018 in Korea.Obesity was defined as a body mass index value of ≥ 30 kg/m 2 .
Results:
The most common disease was IgA nephropathy (IgAN) in both obese and nonobese participants (33.7% vs. 38.9%). Obesity was associated with a higher risk of focal segmental glomerulosclerosis (FSGS) and hypertensive nephropathy (HT-N) (odds ratio [OR], 1.72, 95% confidence interval [CI], 1.37–2.17; OR, 1.96, 95% CI, 1.21–3.19) and a lower risk of IgAN (OR, 0.74, 95% CI, 0.62–0.88). During the median follow up of 93.1 ± 88.7 months, obesity increased the risk of end-stage kidney disease (ESKD) in patients with IgAN (relative risk [RR], 1.49, 95% CI, 1.01–2.20) and lupus nephritis (LN) (RR, 3.43, 95% CI, 1.36–8.67). Of 947 obese individuals, ORG was detected in 298 (31.5%), and 230 participants had other kidney diseases, most commonly, IgAN (40.9%) followed by diabetic nephropathy (15.2%). Participants with ORG, when combined with other renal diseases, showed higher risks for developing ESKD compared to those with ORG alone (RR, 2.48, 95% CI, 1.09–5.64).
Conclusion
Obesity is associated with an increased risk of FSGS and HT-N, and also increase the ESKD risk in IgAN and LN patients. ORG in obese participants may have favorable renal outcomes if it occurs alone without any other renal disease.
4.Impact of COVID-19 Infection and Its Association With Previous Vaccination in Patients With Myasthenia Gravis in Korea: A Multicenter Retrospective Study
Hee Jo HAN ; Seung Woo KIM ; Hyunjin KIM ; Jungmin SO ; Eun-Jae LEE ; Young-Min LIM ; Jung Hwan LEE ; Myung Ah LEE ; Byung-Jo KIM ; Seol-Hee BAEK ; Hyung-Soo LEE ; Eunhee SOHN ; Sooyoung KIM ; Jin-Sung PARK ; Minsung KANG ; Hyung Jun PARK ; Byeol-A YOON ; Jong Kuk KIM ; Hung Youl SEOK ; Sohyeon KIM ; Ju-Hong MIN ; Yeon Hak CHUNG ; Jeong Hee CHO ; Jee-Eun KIM ; Seong-il OH ; Ha Young SHIN
Journal of Korean Medical Science 2024;39(18):e150-
Background:
During the coronavirus disease 2019 (COVID-19) pandemic, patients with myasthenia gravis (MG) were more susceptible to poor outcomes owing to respiratory muscle weakness and immunotherapy. Several studies conducted in the early stages of the COVID-19 pandemic reported higher mortality in patients with MG compared to the general population. This study aimed to investigate the clinical course and prognosis of COVID-19 in patients with MG and to compare these parameters between vaccinated and unvaccinated patients in South Korea.
Methods:
This multicenter, retrospective study, which was conducted at 14 tertiary hospitals in South Korea, reviewed the medical records and identified MG patients who contracted COVID-19 between February 2022 and April 2022. The demographic and clinical characteristics associated with MG and vaccination status were collected. The clinical outcomes of COVID-19 infection and MG were investigated and compared between the vaccinated and unvaccinated patients.
Results:
Ninety-two patients with MG contracted COVID-19 during the study. Nine (9.8%) patients required hospitalization, 4 (4.3%) of whom were admitted to the intensive care unit. Seventy-five of 92 patients were vaccinated before contracting COVID-19 infection, and 17 were not. During the COVID-19 infection, 6 of 17 (35.3%) unvaccinated patients were hospitalized, whereas 3 of 75 (4.0%) vaccinated patients were hospitalized (P < 0.001). The frequencies of ICU admission and mechanical ventilation were significantly lower in the vaccinated patients than in the unvaccinated patients (P = 0.019 and P = 0.032, respectively). The rate of MG deterioration was significantly lower in the vaccinated patients than in the unvaccinated patients (P = 0.041). Logistic regression after weighting revealed that the risk of hospitalization and MG deterioration after COVID-19 infection was significantly lower in the vaccinated patients than in the unvaccinated patients.
Conclusion
This study suggests that the clinical course and prognosis of patients with MG who contracted COVID-19 during the dominance of the omicron variant of COVID-19 may be milder than those at the early phase of the COVID-19 pandemic when vaccination was unavailable. Vaccination may reduce the morbidity of COVID-19 in patients with MG and effectively prevent MG deterioration induced by COVID-19 infection.
5.The effect of periodontitis on recipient outcomes after kidney transplantation
Hyeon-Jin MIN ; Jung-Soo PARK ; Jaeseok YANG ; Jihyun YANG ; Se Won OH ; Sang-Kyung JO ; Won Yong CHO ; Jun Gyo GWON ; Cheol Woong JUNG ; Yang-Jo SEOL ; Shin-Young PARK ; Myung-Gyu KIM
Kidney Research and Clinical Practice 2022;41(1):114-123
Recent several reports have demonstrated that periodontitis is prevalent and adversely affects the survival in patients with chronic kidney disease (CKD) or end-stage kidney disease. However, its impact on transplant outcomes remains uncertain. Methods: This retrospective cohort study included 136 and 167 patients, respectively, who underwent living donor kidney transplantation (KT) at Seoul National University Hospital from July 2012 to August 2016 and Korea University Hospital from April 2008 to October 2018. We divided patients into three groups according to stages of periodontitis based on a new classification system. Results: Patients with severe periodontitis were older, had a higher prevalence of diabetes, a higher body mass index and C-reactive protein level, a lower cardiac output, and were more likely to be smokers, indicating its association with chronic systemic inflammation. After KT, stage IV periodontitis was independently associated with a lower incidence of acute T cell-mediated rejection, suggesting the possible effect of periodontitis on immune function. However, 1-year and 3-year estimated glomerular filtration rates were not different. Among the KT recipients followed up more than 3 years, new-onset cardiovascular disease occurred in nine patients, and coronary artery disease occurred more frequently in patients with stage IV periodontitis. However, diabetes was the independent predictor of new-onset coronary artery disease in multivariate logistic regression analysis. Conclusion: Our findings showed that periodontitis might be an important player in determining posttransplant outcomes in recipients. Further interventional trials to test whether treating periodontitis could modify transplant outcome are needed.
6.Clinical Outcomes Following Letrozole Treatment according to Estrogen Receptor Expression in Postmenopausal Women: LETTER Study (KBCSG-006)
Sung Gwe AHN ; Seok Jin NAM ; Sei Hyun AHN ; Yongsik JUNG ; Heung Kyu PARK ; Soo Jung LEE ; Sung Soo KANG ; Wonshik HAN ; Kyong Hwa PARK ; Yong Lai PARK ; Jihyoun LEE ; Hyun Jo YOUN ; Jun Hyun KIM ; Youngbum YOO ; Jeong-Yoon SONG ; Byung Kyun KO ; Geumhee GWAK ; Min Sung CHUNG ; Sung Yong KIM ; Seo Heon CHO ; Doyil KIM ; Myung-Chul CHANG ; Byung In MOON ; Lee Su KIM ; Sei Joong KIM ; Min Ho PARK ; Tae Hyun KIM ; Jihyoung CHO ; Cheol Wan LIM ; Young Tae BAE ; Gyungyub GONG ; Young Kyung BAE ; Ahwon LEE ; Joon JEONG
Journal of Breast Cancer 2021;24(2):164-174
Purpose:
In this trial, we investigated the efficacy and safety of adjuvant letrozole for hormone receptor (HR)-positive breast cancer. Here, we report the clinical outcome in postmenopausal women with HR-positive breast cancer treated with adjuvant letrozole according to estrogen receptor (ER) expression levels.
Methods:
In this multi-institutional, open-label, observational study, postmenopausal patients with HR-positive breast cancer received adjuvant letrozole (2.5 mg/daily) for 5 years unless they experienced disease progression or unacceptable toxicity or withdrew their consent. The patients were stratified into the following 3 groups according to ER expression levels using a modified Allred score (AS): low, intermediate, and high (AS 3–4, 5–6, and 7–8, respectively). ER expression was centrally reviewed. The primary objective was the 5-year disease-free survival (DFS) rate.
Results:
Between April 25, 2010, and February 5, 2014, 440 patients were enrolled. With a median follow-up of 62.0 months, the 5-year DFS rate in all patients was 94.2% (95% confidence interval [CI], 91.8–96.6). The 5-year DFS and recurrence-free survival (RFS) rates did not differ according to ER expression; the 5-year DFS rates were 94.3% and 94.1%in the low-to-intermediate and high expression groups, respectively (p = 0.6), and the corresponding 5-year RFS rates were 95.7% and 95.4%, respectively (p = 0.7). Furthermore, 25 patients discontinued letrozole because of drug toxicity.
Conclusion
Treatment with adjuvant letrozole showed very favorable treatment outcomes and good tolerability among Korean postmenopausal women with ER-positive breast cancer, independent of ER expression.
7.Clinical Outcomes Following Letrozole Treatment according to Estrogen Receptor Expression in Postmenopausal Women: LETTER Study (KBCSG-006)
Sung Gwe AHN ; Seok Jin NAM ; Sei Hyun AHN ; Yongsik JUNG ; Heung Kyu PARK ; Soo Jung LEE ; Sung Soo KANG ; Wonshik HAN ; Kyong Hwa PARK ; Yong Lai PARK ; Jihyoun LEE ; Hyun Jo YOUN ; Jun Hyun KIM ; Youngbum YOO ; Jeong-Yoon SONG ; Byung Kyun KO ; Geumhee GWAK ; Min Sung CHUNG ; Sung Yong KIM ; Seo Heon CHO ; Doyil KIM ; Myung-Chul CHANG ; Byung In MOON ; Lee Su KIM ; Sei Joong KIM ; Min Ho PARK ; Tae Hyun KIM ; Jihyoung CHO ; Cheol Wan LIM ; Young Tae BAE ; Gyungyub GONG ; Young Kyung BAE ; Ahwon LEE ; Joon JEONG
Journal of Breast Cancer 2021;24(2):164-174
Purpose:
In this trial, we investigated the efficacy and safety of adjuvant letrozole for hormone receptor (HR)-positive breast cancer. Here, we report the clinical outcome in postmenopausal women with HR-positive breast cancer treated with adjuvant letrozole according to estrogen receptor (ER) expression levels.
Methods:
In this multi-institutional, open-label, observational study, postmenopausal patients with HR-positive breast cancer received adjuvant letrozole (2.5 mg/daily) for 5 years unless they experienced disease progression or unacceptable toxicity or withdrew their consent. The patients were stratified into the following 3 groups according to ER expression levels using a modified Allred score (AS): low, intermediate, and high (AS 3–4, 5–6, and 7–8, respectively). ER expression was centrally reviewed. The primary objective was the 5-year disease-free survival (DFS) rate.
Results:
Between April 25, 2010, and February 5, 2014, 440 patients were enrolled. With a median follow-up of 62.0 months, the 5-year DFS rate in all patients was 94.2% (95% confidence interval [CI], 91.8–96.6). The 5-year DFS and recurrence-free survival (RFS) rates did not differ according to ER expression; the 5-year DFS rates were 94.3% and 94.1%in the low-to-intermediate and high expression groups, respectively (p = 0.6), and the corresponding 5-year RFS rates were 95.7% and 95.4%, respectively (p = 0.7). Furthermore, 25 patients discontinued letrozole because of drug toxicity.
Conclusion
Treatment with adjuvant letrozole showed very favorable treatment outcomes and good tolerability among Korean postmenopausal women with ER-positive breast cancer, independent of ER expression.
8.The First Korean Case of NUP98-NSD1 and a Novel SNRK-ETV6 Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing
Ha Jin LIM ; Jun Hyung LEE ; Young Eun LEE ; Hee-Jo BAEK ; Hoon KOOK ; Ju Heon PARK ; Seung Yeob LEE ; Hyun-Woo CHOI ; Hyun-Jung CHOI ; Seung-Jung KEE ; Jong Hee SHIN ; Myung Geun SHIN
Annals of Laboratory Medicine 2021;41(4):443-446
9.Taxonomic Study of the Genus Pholiota (Strophariaceae, Basidiomycota) in Korea
Jun Won LEE ; Myung Soo PARK ; Ji-Hyun PARK ; Yoonhee CHO ; Changmu KIM ; Chang Sun KIM ; Jong Won JO ; Young Woon LIM
Mycobiology 2020;48(6):476-483
The genus Pholiota (Strophariaceae, Basidiomycota) is made up of wood-rotting saprotrophic mushrooms characterized by a yellow or brown pileus with scales and/or slimy, and by a brownish smooth spore with a germ pore. However, these features are not enough to distinguish its species, or separate the genus Pholiota from other brown-spored wood-rotting genera such as Hypholoma and Stropharia. Although internal transcribed spacer (ITS) sequence-based identification has improved identification accuracy for species of Pholiota, most Pholiota species in Korea are reported based on morphological features. To evaluate the taxonomy of Pholiota species, we investigated 62 specimens collected from 1999 to 2019 in Korea using ITS sequence analysis and morphological observation. Twelve of the 16 recorded Pholiota species in Korea were identified. While eight species were clearly separated, the ITS analysis did not distinguish three in the Pholiota adiposa complex. Therefore, further investigation is required to distinguish these three species. ITS sequences deposited in GenBank confirm that P. highlandensis exists in Korea. The presence of the other four Pholiota species could not be confirmed through specimens or sequence information in GenBank. A taxonomic key and the ITS sequence data for Korean Pholiota species are included and can be good baselines for further research on Pholiota taxonomy and diversity.
10.Taxonomic Study of the Genus Pholiota (Strophariaceae, Basidiomycota) in Korea
Jun Won LEE ; Myung Soo PARK ; Ji-Hyun PARK ; Yoonhee CHO ; Changmu KIM ; Chang Sun KIM ; Jong Won JO ; Young Woon LIM
Mycobiology 2020;48(6):476-483
The genus Pholiota (Strophariaceae, Basidiomycota) is made up of wood-rotting saprotrophic mushrooms characterized by a yellow or brown pileus with scales and/or slimy, and by a brownish smooth spore with a germ pore. However, these features are not enough to distinguish its species, or separate the genus Pholiota from other brown-spored wood-rotting genera such as Hypholoma and Stropharia. Although internal transcribed spacer (ITS) sequence-based identification has improved identification accuracy for species of Pholiota, most Pholiota species in Korea are reported based on morphological features. To evaluate the taxonomy of Pholiota species, we investigated 62 specimens collected from 1999 to 2019 in Korea using ITS sequence analysis and morphological observation. Twelve of the 16 recorded Pholiota species in Korea were identified. While eight species were clearly separated, the ITS analysis did not distinguish three in the Pholiota adiposa complex. Therefore, further investigation is required to distinguish these three species. ITS sequences deposited in GenBank confirm that P. highlandensis exists in Korea. The presence of the other four Pholiota species could not be confirmed through specimens or sequence information in GenBank. A taxonomic key and the ITS sequence data for Korean Pholiota species are included and can be good baselines for further research on Pholiota taxonomy and diversity.

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