1.Detection of Fusion Genes Using RNA Sequencing in Acute Leukemia
Hyun-Young KIM ; Boram KIM ; Min-Seung PARK ; Jong-Ho PARK ; Hee Young JU ; Keon Hee YOO ; Jun Ho JANG ; Chul Won JUNG ; Hee-Jin KIM
Annals of Laboratory Medicine 2026;46(3):257-269
Background:
Fusion genes are major drivers of acute leukemia. Conventional diagnostics are limited in detecting the diverse fusions included in recently updated acute leukemia classifications. We evaluated the fusion detection performance of RNA sequencing (RNAseq) compared with that of conventional diagnostics in patients with acute leukemia.
Methods:
We retrospectively obtained the data of 101 patients with acute leukemia who underwent conventional diagnostics (i.e., karyotyping, FISH, or multiplex reverse transcription PCR) at diagnosis at Samsung Medical Center, Seoul, Korea, between September 2022 and September 2023. Whole RNA-seq was performed using the Illumina Stranded mRNA Prep kit (Illumina, San Diego, CA, USA). The concordance, sensitivity, and specificity of RNA-seq for fusion gene detection were compared with those of conventional diagnostics.
Results:
RNA-seq helped identify 52 fusion genes in 51 (50.5%) of 101 patients, with detection rates of 40.7%, 70.3%, 37.5%, and 50% in acute myeloid leukemia, B-cell acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemia, and mixed-phenotype acute leukemia, respectively. RNA-seq showed 83.3% sensitivity and 80.8% concordance with conventional diagnostics; it missed eight fusions, likely because of low transcript abundance or enhancer hijacking. RNA-seq also helped clarify three previously unspecified rearrangements and detected 12 fusions (21.4%) in 56 cases that tested negative with conventional diagnostics, including four novel (KMT2A::THAP12 , RUNX1::PRPF19 , MLLT10::UBE2L6, and FUS::ZNF362) and three rare (HNRNPH1::ERG, RUNX1::USP42, and ETV6::NCOA2) fusions.
Conclusions
This was the first study to evaluate the performance of whole RNA-seq in fusion detection in patients with acute leukemia in Korea. Incorporating RNA-seq into diagnostic workflows may facilitate earlier and more precise therapeutic decisions and improve prognostic assessment in patients with acute leukemia.
2.Transition to a Primary Care–Centered Healthcare System: A Structural Reform for Korean Healthcare
Serng Bai PAK ; Sang-Hyun LEE ; Kyung-Hee CHO ; Juhwan OH ; Sang-il LEE ; Kunhee PARK ; Jae-Heon KANG ; Seung-Won OH ; Hee Gyung KANG ; Mihwa YOO
Korean Journal of Family Practice 2026;16(1):33-41
Korea’s healthcare system is at a critical juncture as rapid population aging, rising chronic disease burdens, and fragmented care expose the limits of a hospital-centered, fee-for-service model. Although policy discussions have long emphasized strengthening primary care and introducing a “family doctor” system, past reforms have focused mainly on expanding services or redefining professional roles, without establishing clear accountability, care continuity, or aligned payment mechanisms. Consequently, primary care remains weak and responsibility for comprehensive patient management is diffuse. This article argues that meaningful reform requires redefining the primary physician as an accountable manager of longitudinal, coordinated care within an integrated delivery and payment framework. Drawing on experiences from the United States, the United Kingdom, and several European countries, it identifies common features of successful primary care–oriented systems, including patient registration, team-based care, risk-adjusted payment, and explicit outcome accountability. Based on these insights, the authors propose a Korean primary physician model tailored to solo and small-group practices while fostering regional collaboration. Core elements include voluntary patient registration, multidisciplinary primary care teams, risk-stratified care management, regional care networks, and a mixed payment model combining per-member-per-month payments, shared savings, and performance-based incentives. The article emphasizes phased pilot testing focused on operational feasibility. Ultimately, transitioning to a primary care–centered system is presented as a strategic necessity for sustainability and improved care continuity.
3.Current Status and Improvement Strategies for the Resident Training System in South Korea:Focusing on Patient Safety and Sustainable Healthcare
Seung-Won OH ; HaDa RYUOK ; Ilyoung OH ; Jae-Heon KANG ; Eun Jin HA ; Hee Gyung KANG ; Serng Bai PAK ; Junghee AHN ; Mihwa YOO ; Eunyoung CHO ; Juhwan OH
Korean Journal of Family Practice 2026;16(1):48-58
The South Korean resident training system is currently at a critical turning point, facing structural crises characterized by excessive labor-intensive environments and deteriorating quality of education. Since the medical standoff in 2024, the limitations of relying on junior doctors’ labor for hospital operations have become increasingly apparent. This review examines the current status and problems of the resident training system, including long working hours exceeding Organisation for Economic Co-operation and Development (OECD) standards, lack of systematic competency-based education, and worsening regional and essential medical imbalances. By analyzing international cases from the United States, United Kingdom, Japan, and Australia, this article proposes four core strategies for reform: (1) establishing a sustainable working and educational environment through the expansion of hospitalist systems and legalizing physician assistant roles; (2) innovating the curriculum and evaluation systems based on entrustable professional activities and milestones; (3) implementing a network-based training model to bridge the gap between metropolitan and regional healthcare; and (4) securing stable financial support and strengthening governance through the establishment of an independent evaluation body (e.g., K-ACGME). Ultimately, reforming the training system is essential not only for the rights and professional growth of residents but also for ensuring patient safety and the long-term sustainability of the national healthcare system.
4.What Should Be Done Right Now for Better Health System in 10 Years?: Health System Reform Tasks
Juhwan OH ; Sang-il LEE ; Kunhee PARK ; Seung-Won OH ; Junghee AHN ; HaDa RYUOK ; Eun Jin HA ; Seung-yeon CHO ; Sung-ju KIM ; Eunyoung CHO ; Hee Gyung KANG ; Serng Bai PAK ; Eun Kyung EO
Korean Journal of Family Practice 2026;16(1):1-8
South Korea’s current healthcare system stands at a critical crossroads that will determine whether it can progress in a better direction over the next decade. Behind the relatively stable level of population health that has been maintained until now, it has become clear that the deterioration of patient experiences, the risk of collapse in critical emergency medical services, the burnout of healthcare providers, and the crisis in the sustainability of healthcare finances have all accumulated simultaneously. This crisis can no longer be overcome by partial fixes or short-term measures alone. The answer to what needs to change first must begin with a reaffirmation of what the healthcare system should aim for. Ultimately, what needs to be changed now is not an individual policy, but the criteria and priorities through which we view healthcare. The focus must shift from what to provide more of, to questioning what holds greater social value. If such a shift does not begin now, in ten years we won’t face a better healthcare system, but care enmeshed in a deeper crisis. Now is precisely the time to fundamentally define the direction of the healthcare system.
6.Diagnostic Performance and Clinical Implications of the “Probable Hepatocellular Carcinoma” Category in the Korean Liver Cancer Association-National Cancer Center Korea Guidelines v2022
Jeong Hee YOON ; Jin-Young CHOI ; Young Kon KIM ; Chang Hee LEE ; Jeong Woo KIM ; Won CHANG ; Joon-Il CHOI ; Seung-seob KIM ; Hee Sun PARK ; Eun Sun LEE ; Jeong-Sik YU ; Seong Jin PARK ; Myung-Won YOU ; Myoung-jin JANG ; Beom Jin PARK ; Jeong Min LEE
Korean Journal of Radiology 2026;27(4):318-331
Objective:
To evaluate the diagnostic performance of the “probable hepatocellular carcinoma (HCC)” category in the Korean Liver Cancer Association-National Cancer Center (KLCA-NCC) v2022 guidelines.
Materials and Methods:
This multicenter retrospective study included patients at risk of HCC who underwent gadoxetic acid-enhanced MRI between January 2015 and June 2018; a subgroup of these patients also underwent liver CT. Eligible patients had at least one non-cystic lesion (≥10 mm) with a reference standard. Four radiologists interpreted the images independently and the results were pooled. The performance of “definite HCC” and “probable HCC” together and “probable HCC” alone were compared between v2018 and v2022.
Results:
A total of 2,237 patients (1,666 men; mean age, 59 ± 11 years) with 2,445 lesions were included. In v2022, 1.5% (143/9,780) of the lesions were additionally categorized as “probable HCC” by four reviewers on MRI; among these, 104 lesions were not HCCs. Focal nodular hyperplasia (FNH) or FNH-like nodules constituted 90.4% (94/104) of the false positives. When “definite HCC” and “probable HCC” were combined, v2022 showed higher sensitivity (83.7% [5,670/6,776] vs. 83.1% [5,631/6,776]) but lower specificity (77.1% [2,316/3,004] vs. 80.6% [2,420/3,004]) than v2018 (P < 0.001). For “probable HCC” alone, v2022 showed a lower positive predictive value (PPV) than v2018 (64.1% [373/582] vs. 76.1% [334/439], P < 0.001). In v2022, lesions with non-rim arterial-phase hyperenhancement (APHE) showed a lower PPV than those without APHE (42.3% [91/215] vs. 76.8% [282/367], P < 0.001). In the CT subgroup (n = 1,590), 1.6% (99/6,360) of the lesions were reassessed as “probable HCC,” and its PPV was 83.8% (83/99) in v2022 whereas no lesions were classified as “probable HCC” under v2018.
Conclusion
The revised “probable HCC” category in the KLCA-NCC v2022 aligns with updates in the diagnostic flow, demonstrating acceptable performance on MRI and CT. Notably, FNH or FNH-like nodules can be misclassified as “probable HCC” when MRI is used.
7.Clinical Guideline for the Use of Biodegradable Rectal Spacers During Radiotherapy for Prostate Cancer
Hyun Ho HAN ; Jong Kyou KWON ; Do Kyung KIM ; Jin Hyung JEON ; Chan Woo WEE ; Jae Ho CHO ; Ji Hee JUNG ; A Young YOO ; Jae Young JOUNG ; Gee Hyun SONG ; Seung Ju LEE ; Won PARK ; Chan Kyo KIM ; Young Seok KIM ; Yeon Joo KIM ; Ah Ram CHANG ; Jae Sik KIM ; Sung Hwan BAE ; Byoung Kyu HAN ; Kang Su CHO
Journal of Urologic Oncology 2026;24(1):3-12
Purpose:
Radiotherapy (RT) remains a cornerstone of curative treatment for localized and locally advanced prostate cancer. However, dose escalation to improve tumor control is often constrained by the proximity of the rectum, which increases the risk of gastrointestinal (GI) and genitourinary toxicities. Biodegradable rectal spacers inserted between the prostate and rectum have emerged as an effective approach to reduce rectal radiation exposure. This guideline provides evidence-based recommendations on indications, contraindications, procedural standards, and clinical management for biodegradable rectal spacer insertion during prostate cancer RT.
Materials and Methods:
This guideline was developed by a multidisciplinary expert panel through a systematic review of the literature, analysis of international guidelines (National Comprehensive Cancer Network, European Association of Urology, American Society for Radiation Oncology), and expert consensus among radiation oncologists, radiologists, and urologists with clinical experience in spacer insertion. The strength of each recommendation and the level of evidence were classified according to the modified GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) system.
Results:
Spacer insertion is conditionally recommended (Grade C, Level I) for patients receiving definitive external-beam RT without rectal invasion. It reduces the high-dose rectal irradiation volume (V70–75) by >50%, decreases acute GI toxicity, and helps maintain bowel-related quality of life. However, the benefit for late severe toxicity (grade 2 or higher) remains debated in recent meta-analyses. Contraindications include rectal invasion, anatomical inaccessibility, infection, and material hypersensitivity. Procedures should be performed under local anesthesia in a sterile environment by trained physicians. Short-course antibiotics and simulator-based training, including completion of multiple supervised cases, are advised.
Conclusion
Biodegradable rectal spacer insertion is clinically validated and effective in reducing acute rectal toxicity. Although pivotal trials demonstrated a favorable procedural safety profile, real-world postmarket data include reports of rare but severe procedural complications. This guideline provides standardized recommendations tailored to Korean clinical practice while remaining consistent with international standards, emphasizing the importance of operator training and careful patient selection.
8.Impact of obesity on renal function in elderly Korean adults: a national population-based cohort study
Jihyun YANG ; Hui Seung LEE ; Chi-Yeon LIM ; Hyunsuk KIM ; Sungjin CHUNG ; Soon Hyo KWON ; Jang-Hee CHO ; Kyung Don YOO ; Woo Yeong PARK ; In O SUN ; Byung Chul YU ; Gang-Jee KO ; Jae Won YANG ; Won Min HWANG ; Sang Heon SONG ; Sung Joon SHIN ; Yu Ah HONG ; Eunjin BAE ; Young Youl HYUN
Kidney Research and Clinical Practice 2026;45(1):65-76
Background:
Obesity is a well-known risk factor for chronic kidney disease and its progression. However, the impact of obesity on the renal function of the elderly population is uncertain. We investigated the association between obesity and renal outcomes in the elderly.
Methods:
We analyzed 130,504 participants from the Korean National Health Insurance Service-Senior cohort. Obesity was classified according to body mass index (BMI), sex-specific waist circumference (WC), and the presence of metabolic syndrome. The primary outcome was renal function decline, defined as a decline in the estimated glomerular filtration rate (eGFR) of at least 50% from baseline or new-onset end-stage renal disease.
Results:
During a follow-up period of 559,531.1 person-years (median, 4.3 years), 2,486 participants (19.0%; incidence rate of 4.44 per 1,000 person-years) showed renal function decline. A multivariate Cox proportional hazards model revealed that BMI/WC was not associated with renal function decline. However, the group with metabolic syndrome had a significantly increased risk of renal function decline compared to the group without metabolic syndrome (adjusted hazard ratio [HR], 1.24; 95% confidence interval [CI], 1.13–1.36). Compared with the non-metabolic syndrome group, the adjusted HRs (95% CI) for participants with one through five components were 0.96 (0.84–1.11), 1.10 (0.96–1.27), 1.24 (1.06–1.45), 1.37 (1.12–1.66), and 1.99 (1.42–2.79), respectively (p for trend < 0.001).
Conclusion
In elderly Korean adults, metabolic syndrome and the number of its components were associated with a higher risk of renal function decline, but BMI or WC was not significant.
9.Effects of the timing of testicular sperm retrieval on intracytoplasmic sperm injection outcomes
Tae Ho HWANG ; Jae Kyun PARK ; Dong Hyuk SHIN ; Won Hee LEE ; Ye Eun KIM ; Yohan HEO ; Tae Ho LEE ; Seung-Ryeol LEE ; Seung-Hun SONG
Clinical and Experimental Reproductive Medicine 2026;53(2):115-120
Objective:
This study aimed to evaluate reproductive outcomes according to the timing of testicular sperm retrieval.
Methods:
The study included 282 infertile couples divided into three groups: group A (freeze-thawed testicular sperm extraction [TESE] sperm, n=233), group B (fresh TESE sperm collected 1 day before ovum pickup, n=22), and group C (fresh TESE sperm collected on the same day as ovum pickup, n=27). The indications for TESE were surgically uncorrectable azoospermia or ejaculation failure, often accompanied by medical comorbidities such as diabetes mellitus and spinal cord injury. The outcome parameters assessed were fertilization rates, embryo quality, and clinical pregnancy rates.
Results:
The mean paternal age was 36.8±5.7 years, and the mean maternal age was 32.6±3.5 years. The mean duration of infertility was 2.9±1.8 years. The fertilization rates were 70.7%, 78.9%, and 73.0% for groups A, B, and C, respectively (p=0.047). The percentages of good-quality embryos were 68.2%, 65.3%, and 48.4%, respectively (p=0.007); specifically, the percentage of good-quality embryos was significantly lower in group C compared with the other two groups. Clinical pregnancy rates per transfer were similar at 51.1%, 50.0%, and 48.1% (p=0.958), with no differences observed in miscarriage rates.
Conclusion
Testicular sperm retrieval can be safely performed 1 day before ovum pickup, resulting in favorable fertility outcomes.
10.A Protocol of Korean JOint RegistrY for ALZheimer’s Treatment and Diagnostics (JOY-ALZ)
Geon Ha KIM ; Jung-Min PYUN ; Danbee KANG ; Sung Hoon KANG ; Seong-Ho KOH ; Jae Seung KIM ; So Young MOON ; Won-Jin MOON ; Young Ho PARK ; YongSoo SHIM ; Dong Won YANG ; Young Chul YOUN ; Young Hee JUNG ; Hanna CHO ; Hojin CHOI ; Jae-Sung LIM ; Kee Hyung PARK ; Seong Hye CHOI
Dementia and Neurocognitive Disorders 2026;25(1):25-41
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.

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