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.Clinical Importance of Autoantibodies to SOX10 and Lamin A/C as Potential Biomarkers in Sera From Vitiligo Patients
Jung-Hwan KIM ; Hyun Jeong JU ; Dong-Wha YOO ; Jung Min BAE ; Sanghoon LEE ; Seung-Chul LEE ; Ki-Ho KIM
Annals of Dermatology 2026;38(3):220-225
Background:
The discovery and evaluation of reliable biomarkers of vitiligo are important;however, no clinically established serological markers exist for predicting the clinical prognosis of vitiligo.
Objective:
To investigate the levels of SOX10 and lamin A/C antibodies in the serum of patients diagnosed with vitiligo.
Methods:
In this multicenter prospective study, blood serum samples were collected from adult vitiligo patients. The levels of SOX10 and lamin A/C antibodies were analyzed by direct sandwich enzyme-linked immunosorbent assay. Antibody levels between the groups were compared according to disease activity and subtype.
Results:
A total of 80 patients (46 females; median age 60 years) were enrolled, including 56 (70%) with nonsegmental vitiligo and 27 (33.7%) with active disease. Positivity for SOX10 and lamin A/C antibodies was observed in 35.0% and 71.3% of patients, respectively. SOX10 positivity was significantly higher in active vitiligo than in stable vitiligo (59.3% vs. 24.5%; p=0.003), whereas lamin A/C positivity did not show significant difference (77.8% vs. 69.8%; p=0.60).No significant associations were found between SOX10 or lamin A/C status and the subtype, extent, or the presence of antinuclear antibody, anti-thyroid peroxidase, or anti-thyroglobulin (all p>0.05).
Conclusion
SOX10 antibody could be a potential marker for assessing disease activity in vitiligo. The increased production of SOX10 antibodies in the serum may be due to the underlying death or turnover of SOX10 containing cells under active autoimmune response.
3.Korean Thyroid Association Guidelines on the Management of Differentiated Thyroid Cancers; Part II. Follow-up Surveillance after Initial Treatment 2026
Eun Kyung LEE ; Seung Heon KANG ; Bon Seok KOO ; Mijin KIM ; Min Joo KIM ; Bo Hyun KIM ; Ji Won KIM ; Dong Gyu NA ; Sohyun PARK ; Ji-In BANG ; Kyorim BACK ; Youngduk SEO ; Young-Ik SON ; Young Shin SONG ; Dong Yeob SHIN ; Jong-Hyuk AHN ; Hwa Young AHN ; So Won OH ; Ho-Ryun WON ; Won Sang YOO ; Min Kyoung LEE ; Sang-Woo LEE ; Jeongmin LEE ; Ji Ye LEE ; Dong-Jun LIM ; Ki-Wook CHUNG ; Ari CHONG ; Jin Hyang JUNG ; Sun Wook CHO ; Yoon Young CHO ; Chae Moon HONG ; Young Joo PARK ;
International Journal of Thyroidology 2026;19(1):1-40
In patients with differentiated thyroid cancer (DTC), initial recurrence risk stratification based on clinical, histopathological, and perioperative data remains the key determinant for guiding management strategies during the first 1-2 years post-treatment. However, the adoption of ongoing risk stratification (ORS), which dynamically reassesses risk by integrating longitudinal clinical data and treatment response, enables more precise long-term prognostic assessment and facilitates highly individualized management. Building upon recent guidelines, the 2026 KTA guideline has been further refined by incorporating robust evidence from large-scale national cohorts and comprehensive systematic reviews. These updated recommendations outline contemporary concepts of ORS, risk-adapted TSH suppression targets, optimized surveillance modalities for recurrence detection, and disease-specific long-term follow-up strategies. Reflecting the paradigm shift toward de-escalated treatment, this revision integrates evolved perspectives on TSH suppression intensity, the clinical interpretation of thyroglobulin levels, and tailored follow-up intervals. These evidence-based recommendations aim to minimize unnecessary treatment and excessive surveillance in the large proportion of patients with excellent prognosis after initial therapy, while ensuring that each patient receives appropriately tailored and effective long-term management.
4.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.
5.18F-FDOPA PET/CT in Oncology: Procedural Guideline by the KoreanSociety of Nuclear Medicine
Yong-Jin PARK ; Joon Ho CHOI ; Hyunjong LEE ; Seung Hwan MOON ; Inki LEE ; Joohee LEE ; Jang YOO ; Joon Young CHOI ;
Nuclear Medicine and Molecular Imaging 2025;59(1):41-49
This guideline outlines the use of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography for the diagnosis and management of neuroendocrine tumors, brain tumors, and other tumorous conditions. It provides detailed recommendations on patient preparation, imaging procedures, and result interpretation. Based on inter-national standards and adapted to local clinical practices, the guideline emphasizes safety, quality control, and the effec-tive application of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography for various tumors such as insulinomas, pheochromocytomas, and medullary thyroid carcinoma. It also addresses the use of premedication with carbidopa, fasting protocols, and optimal imaging techniques. The aim is to assist nuclear medicine professionals in delivering precise diagnoses, improving patient outcomes, and accommodating evolving medical knowl-edge and technology. This comprehensive document serves as a practical resource to enhance the accuracy, quality, and safety of 3,4-dihydroxy-6- 18F-fluoro-L-phenylalanine positron emission tomography / computed tomography in oncology.
6.Association of Nutritional Intake with Physical Activity and Handgrip Strength in Individuals with Airflow Limitation
I Re HEO ; Tae Hoon KIM ; Jong Hwan JEONG ; Manbong HEO ; Sun Mi JU ; Jung-Wan YOO ; Seung Jun LEE ; Yu Ji CHO ; Yi Yeong JEONG ; Jong Deog LEE ; Ho Cheol KIM
Tuberculosis and Respiratory Diseases 2025;88(1):120-129
Background:
We investigated whether nutritional intake is associated with physical activity (PA) and handgrip strength (HGS) in individuals with airflow limitation.
Methods:
This study analyzed data from the 2014 and 2016 Korean National Health and Nutrition Examination Survey. We assessed total protein intake (g/day), caloric intake (kcal/day), and other nutritional intakes, using a 24-hour dietary recall questionnaire. HGS was measured three times for each hand using a digital grip strength dynamometer, and PA was assessed as health-enhancing PA. Airflow limitation was defined as a forced expiratory volume/forced vital capacity ratio of 0.7 in individuals over 40 years of age. Participants were categorized into groups based on their PA levels and HGS measurements: active aerobic PA vs. non-active aerobic PA, and normal HGS vs. low HGS.
Results:
Among the 622 individuals with airflow limitation, those involved in active aerobic PA and those with higher HGS had notably higher total food, calorie, water, protein, and lipid intake. The correlations between protein and caloric intake with HGS were strong (correlation coefficients=0.344 and 0.346, respectively). The forest plots show that higher intakes of food, water, calories, protein, and lipids are positively associated with active aerobic PA, while higher intakes of these nutrients are inversely associated with low HGS. However, in the multivariate logistic regression analysis, no significant associations were observed between nutritional intake and active aerobic PA or HGS.
Conclusion
Nutritional intake was found to not be an independent factor associated with PA and HGS. However, the observed correlations suggest potential indirect effects that warrant further investigation.
7.Association of Nutritional Intake with Physical Activity and Handgrip Strength in Individuals with Airflow Limitation
I Re HEO ; Tae Hoon KIM ; Jong Hwan JEONG ; Manbong HEO ; Sun Mi JU ; Jung-Wan YOO ; Seung Jun LEE ; Yu Ji CHO ; Yi Yeong JEONG ; Jong Deog LEE ; Ho Cheol KIM
Tuberculosis and Respiratory Diseases 2025;88(1):120-129
Background:
We investigated whether nutritional intake is associated with physical activity (PA) and handgrip strength (HGS) in individuals with airflow limitation.
Methods:
This study analyzed data from the 2014 and 2016 Korean National Health and Nutrition Examination Survey. We assessed total protein intake (g/day), caloric intake (kcal/day), and other nutritional intakes, using a 24-hour dietary recall questionnaire. HGS was measured three times for each hand using a digital grip strength dynamometer, and PA was assessed as health-enhancing PA. Airflow limitation was defined as a forced expiratory volume/forced vital capacity ratio of 0.7 in individuals over 40 years of age. Participants were categorized into groups based on their PA levels and HGS measurements: active aerobic PA vs. non-active aerobic PA, and normal HGS vs. low HGS.
Results:
Among the 622 individuals with airflow limitation, those involved in active aerobic PA and those with higher HGS had notably higher total food, calorie, water, protein, and lipid intake. The correlations between protein and caloric intake with HGS were strong (correlation coefficients=0.344 and 0.346, respectively). The forest plots show that higher intakes of food, water, calories, protein, and lipids are positively associated with active aerobic PA, while higher intakes of these nutrients are inversely associated with low HGS. However, in the multivariate logistic regression analysis, no significant associations were observed between nutritional intake and active aerobic PA or HGS.
Conclusion
Nutritional intake was found to not be an independent factor associated with PA and HGS. However, the observed correlations suggest potential indirect effects that warrant further investigation.
8.Stress Accelerates Depressive-Like Behavior through Increase of SPNS2 Expression in Tg2576 Mice
Seung Sik YOO ; Yuri KIM ; Dong Won LEE ; Hyeon Joo HAM ; Jung Ho PARK ; In Jun YEO ; Ju Young CHANG ; Jaesuk YUN ; Dong Ju SON ; Sang-Bae HAN ; Jin Tae HONG
Biomolecules & Therapeutics 2025;33(3):417-428
To investigate the relationship between depression and AD, water avoidance stress (WAS) was induced for 10 days in both Tg2576 mice and wild-type (WT) mice. After WAS, memory function and depressive-like behavior were investigated in Tg2576 mice. Tg2576 WAS mice exhibited more depressive-like behaviors than WT WAS and Tg2576 control (CON) mice. Strikingly, Tg2576 CON mice showed more depressive-like behaviors than WT mice. Moreover, corticosterone and phospho-glucocorticoid receptor (p-GR) levels were also higher in Tg2576 WAS mice in comparison to Tg2576 CON mice. Spinster homologue 2 (SPNS2) is a member of non-ATP-dependent transporter. The role of SPNS2 was widely known as a sphingosine-1-phosphate (S1P) transporter, which export intracellular S1P from cells. Using GEO database to analyze SPNS2 gene expression changes in patients with AD and depression, we show that SPNS2 gene expression correlates with AD and depression. Interestingly, Tg2576 WAS mice displayed significantly increased levels of SPNS2 w1hen compared to Tg2576 CON counterparts. SPNS2 levels were also higher in Tg2576 CON mice in comparison with WT CON mice. Remarkably, we found a decrease in S1P brain levels and an increase in S1P serum levels of Tg2576 WAS mice in comparison with Tg2576 CON mice. Accordingly, WAS induced group further decreased S1P levels in the brains. However, the level in the serum further increased in comparison with non-induced group. Therefore, these results suggest that AD and depression could be associated, and that Tg2576 transgenic mice are more susceptible to stress-induced depression through the release of S1P by SPNS2 up-regulation.
9.Factors Associated with Postoperative Recurrence in Stage I to IIIA Non–Small Cell Lung Cancer with Epidermal Growth Factor Receptor Mutation: Analysis of Korean National Population Data
Kyu Yean KIM ; Ho Cheol KIM ; Tae Jung KIM ; Hong Kwan KIM ; Mi Hyung MOON ; Kyongmin Sarah BECK ; Yang Gun SUH ; Chang Hoon SONG ; Jin Seok AHN ; Jeong Eun LEE ; Jae Hyun JEON ; Chi Young JUNG ; Jeong Su CHO ; Yoo Duk CHOI ; Seung Sik HWANG ; Chang Min CHOI ; Seung Hun JANG ; Jeong Uk LIM ;
Cancer Research and Treatment 2025;57(1):83-94
Purpose:
Recent development in perioperative treatment of resectable non–small cell lung cancer (NSCLC) have changed the landscape of early lung cancer management. The ADAURA trial has demonstrated the efficacy of adjuvant osimertinib treatment in resectable NSCLC patients; however, studies are required to show which subgroup of patients are at a high risk of relapse and require adjuvant epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor treatment. This study evaluated risk factors for postoperative relapse among patients who underwent complete resection.
Materials and Methods:
Data were obtained from the Korean Association for Lung Cancer Registry (KALC-R), a database created using a retrospective sampling survey by the Korean Central Cancer Registry (KCCR) and the Lung Cancer Registration Committee.
Results:
A total of 3,176 patients who underwent curative resection was evaluated. The mean observation time was approximately 35.4 months. Among stage I to IIIA NSCLC patients, the EGFR-mutant subgroup included 867 patients, and 75.2%, 11.2%, and 11.8% were classified as stage I, stage II, and stage III, respectively. Within the EGFR-mutant subgroup, 44 (5.1%) and 121 (14.0%) patients showed early and late recurrence, respectively. Multivariate analysis on association with postoperative relapse among the EGFR-mutant subgroup showed that age, pathologic N and TNM stages, pleural invasion status, and surgery type were independent significant factors.
Conclusion
Among the population that underwent complete resection for early NSCLC with EGFR mutation, patients with advanced stage, pleural invasion, or limited resection are more likely to show postoperative relapse.
10.Evaluating Rituximab Failure Rates in Neuromyelitis Optica Spectrum Disorder: A Nationwide Real-World Study From South Korea
Su-Hyun KIM ; Ju-Hong MIN ; Sung-Min KIM ; Eun-Jae LEE ; Young-Min LIM ; Ha Young SHIN ; Young Nam KWON ; Eunhee SOHN ; Sooyoung KIM ; Min Su PARK ; Tai-Seung NAM ; Byeol-A YOON ; Jong Kuk KIM ; Kyong Jin SHIN ; Yoo Hwan KIM ; Jin Myoung SEOK ; Jeong Bin BONG ; Sohyeon KIM ; Hung Youl SEOK ; Sun-Young OH ; Ohyun KWON ; Sunyoung KIM ; Sukyoon LEE ; Nam-Hee KIM ; Eun Bin CHO ; Sa-Yoon KANG ; Seong-il OH ; Jong Seok BAE ; Suk-Won AHN ; Ki Hoon KIM ; You-Ri KANG ; Woohee JU ; Seung Ho CHOO ; Yeon Hak CHUNG ; Jae-Won HYUN ; Ho Jin KIM
Journal of Clinical Neurology 2025;21(2):131-136
Background:
and Purpose Treatments for neuromyelitis optica spectrum disorder (NMOSD) such as eculizumab, ravulizumab, satralizumab, and inebilizumab have significantly advanced relapse prevention, but they remain expensive. Rituximab is an off-label yet popular alternative that offers a cost-effective solution, but its real-world efficacy needs better quantification for guiding the application of newer approved NMOSD treatments (ANTs). This study aimed to determine real-world rituximab failure rates to anticipate the demand for ANTs and aid in resource allocation.
Methods:
We conducted a nationwide retrospective study involving 605 aquaporin-4-antibody-positive NMOSD patients from 22 centers in South Korea that assessed the efficacy and safety of rituximab over a median follow-up of 47 months.
Results:
The 605 patients treated with rituximab included 525 (87%) who received continuous therapy throughout the follow-up period (median=47 months, interquartile range=15–87 months). During this period, 117 patients (19%) experienced at least 1 relapse. Notably, 68 of these patients (11% of the total cohort) experienced multiple relapses or at least 1 severe relapse.Additionally, 2% of the patients discontinued rituximab due to adverse events, which included severe infusion reactions, neutropenia, and infections.
Conclusions
This study has confirmed the efficacy of rituximab in treating NMOSD, as evidenced by an 87% continuation rate among patients over a 4-year follow-up period. Nevertheless, the occurrence of at least one relapse in 19% of the cohort, including 11% who experienced multiple or severe relapses, and a 2% discontinuation rate due to adverse events highlight the urgent need for alternative therapeutic options.

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