1.Epidemiology of Nontyphoidal Salmonella Infections in Korean Children and Genetic Factors Associated with Extra-intestinal Invasion: A Whole-genome Sequencing Analysis
Hyun Mi KANG ; Jiyon CHU ; In Hyuk YOO ; In Young YOO ; Jeong-Ih SHIN ; Mi-Ran SEO ; Yeun-Jun CHUNG ; Seung-Hyun JUNG ; Yeon Joon PARK
Annals of Laboratory Medicine 2025;45(3):312-321
Background:
Understanding the virulence and pathogenicity of invasive nontyphoidal Salmonella (iNTS) in children may support timely treatment and enable closer monitoring of chronic infections. iNTS epidemiology in Asia remains inadequately described. We analyzed the genetic diversity and virulence genes associated with extra-intestinal invasion in Korean children.
Methods:
Salmonella isolates from children < 18 yrs of age diagnosed with moderate-tosevere salmonellosis between January 2019 and December 2021 were subjected to antibiotic susceptibility testing and whole-genome sequencing.
Results:
In total, 58 cases were included. We identified 20 serotypes, the most prevalent being Salmonella Enteritidis (N = 21), followed by Infantis (N = 6), I 4,[5],12:i:- (N = 5), and Bareilly (N = 5). Extra-intestinal invasion occurred in 12 (20.7%) cases involving Salmonella Oranienburg (2/2), Give (1/1), Javiana (1/1), Paratyphi B var. L(+) tartrate+ (1/1), Schwarzengrund (1/1), Singapore (1/1), Montevideo (1/2), Saintpaul (1/2), I 4:b:- (1/2), Infantis (1/6), and Enteritidis (1/21). While the numbers of total virulence genes and genes belonging to major virulence categories did not significantly differ between iNTS and noniNTS, several genetic factors, including Salmonella pathogenicity island (SPI)-1 (P = 0.039), SPI-2 (P = 0.020), SPI-5 (P = 0.014), SPI-13 (P = 0.010), cytolethal distending toxin-related genes (P = 1.4 × 10 –4 ), fepC (P = 0.021), and tcpC (P = 0.040) were more frequent in invasive isolates.
Conclusions
Salmonella Enteritidis-ST11 predominated in infections among Korean children, but invasive isolates were rare. Early detection of genetic factors associated with extra-intestinal invasion will be helpful for prompt and appropriate treatment.
2.Clinical Implications of Circulating Tumor DNA in Multiple Myeloma and Its Precursor Diseases
Sung-Soo PARK ; Na Yung KIM ; Ji-Young LIM ; Jung Yeon LEE ; Sujin YUN ; Yeun-Jun CHUNG ; Seung-Hyun JUNG ; Chang-Ki MIN
Annals of Laboratory Medicine 2025;45(3):279-290
Background:
Genetic alterations play a pivotal role in multiple myeloma (MM) development and therapeutic resistance. Traditionally, the genetic profiling of MM requires invasive bone marrow (BM) procedures; however, these procedures are associated with patient discomfort and cannot fully capture the spatial and temporal heterogeneity of the disease.Therefore, we investigated the clinical implications of liquid biopsy using targeted deep sequencing.
Methods:
We analyzed the genetic profiles of circulating tumor DNA (ctDNA) by targeted deep sequencing from 102 patients, including those with monoclonal gammopathy of undetermined significance (MGUS, N = 7), smoldering MM (N = 6), and symptomatic MM (N = 89).
Results:
The number of ctDNA mutations increased with disease progression from MGUS to MM, with averages of 1.0 mutations in MGUS, 1.8 mutations in smoldering MM, and 1.9 mutations in MM, respectively. Shared mutations between BM and ctDNA were more prevalent in MM (68.9%) than in MGUS (25.0%). RAS/RAF and TP53 mutations were significantly enriched in MM ctDNA. Specific mutations were associated with clinical features in patients with MM: hypercalcemia and TET2 (P = 0.006), renal insufficiency and NRAS (P = 0.012), paramedullary myeloma and TP53(P = 0.02), and extramedullary myeloma and NRAS (P = 0.007). TET2 mutations significantly affected 2-yr progression-free survival (hazard ratio = 7.11, P = 0.003). Serial ctDNA profiling accurately predicted treatment response in patients with MM.
Conclusions
Our findings highlight the potential of liquid biopsy for understanding MM progression and prognosis utilizing a minimally invasive approach, paving the way for its integration into personalized treatment strategies and real-time disease monitoring.
3.A walk through the development of human leukocyte antigen typing: from serologic techniques to next-generation sequencing
Haeyoun CHOI ; Eun-Jeong CHOI ; Hyoung-Jae KIM ; In-Cheol BAEK ; Aegyeong WON ; Su Jin PARK ; Tai-Gyu KIM ; Yeun-Jun CHUNG
Clinical Transplantation and Research 2024;38(4):294-308
Human leukocyte antigen (HLA) is a group of glycoproteins encoded by the major his-tocompatibility complex (MHC) that plays a pivotal role in the host's immune defense.Given that the MHC represents the most polymorphic region in the human genome, HLA typing is crucial in organ transplantation. It significantly influences graft rejection, graft-versus-host disease, and the overall patient outcome by mediating the discrimination between self and nonself. HLA typing technology began with serological methods and has evolved rapidly alongside advances in molecular technologies, progressing from DNA-based typing to next- or third-generation sequencing. These advancements have increased the accuracy of HLA typing and reduced ambiguities, leading to marked improvements in transplantation outcomes. Additionally, numerous novel HLA alleles have been identified. In this review, we explore the developmental history and future prospects of HLA typing technology, which promises to further benefit the field of transplantation.
4.Distinct Impacts of Clinicopathological and Mutational Profiles on Long-Term Survival and Recurrence in Medullary Thyroid Carcinoma
Moon Young OH ; Kyong Yeun JUNG ; Hoonsung CHOI ; Young Jun CHAI ; Sun Wook CHO ; Su-jin KIM ; Kyu Eun LEE ; Eun-Jae CHUNG ; Do Joon PARK ; Young Joo PARK ; Han-Kwang YANG
Endocrinology and Metabolism 2024;39(6):877-890
Background:
Medullary thyroid carcinoma (MTC) has a poorer prognosis than differentiated thyroid cancers; however, comprehensive data on the long-term outcomes of MTC remain scarce. This study investigated the extended clinical outcomes of MTC and aimed to identify prognostic factors.
Methods:
Patients diagnosed with MTC between 1980 and 2020 were retrospectively reviewed. Their clinical characteristics, longterm clinical outcomes, and prognostic factors for recurrence and mortality were analyzed.
Results:
The study included 226 patients (144 women, 82 men). The disease-specific survival (DSS) rates for all MTC patients at 5-, 10-, 20-, and 30-year intervals were 92.7%, 89.4%, 74.3%, and 68.1%, respectively. The recurrence-free survival (RFS) rates were 71.1%, 56.1%, 40.2%, and 32.1% at these intervals. DSS was comparable between the groups from 1980–2009 and 2010–2020 (P=0.995); however, the 1980–2009 group had significantly lower RFS rates (P=0.031). The 2010–2020 group exhibited greater extents of surgical and lymph node dissection (P=0.003) and smaller tumors (P=0.003). Multivariate analysis identified extrathyroidal extension as the strongest prognostic factor for both RFS and DSS. Age >55 years and tumor size of ≥2 cm were also significant prognostic factors for DSS, while hereditary disease and lymph node metastasis were significant for RFS. Survival analysis after propensity-score matching of rearranged during transfection (RET)-negative and non-screened RET-positive groups showed comparable DSS but longer RFS in the RET-negative group.
Conclusion
Extrathyroidal extension was identified as the strongest prognostic factor for RFS and DSS. Older age and larger tumor size were associated with decreased DSS, while RET mutation and lymph node metastasis significantly impacted RFS.
5.A walk through the development of human leukocyte antigen typing: from serologic techniques to next-generation sequencing
Haeyoun CHOI ; Eun-Jeong CHOI ; Hyoung-Jae KIM ; In-Cheol BAEK ; Aegyeong WON ; Su Jin PARK ; Tai-Gyu KIM ; Yeun-Jun CHUNG
Clinical Transplantation and Research 2024;38(4):294-308
Human leukocyte antigen (HLA) is a group of glycoproteins encoded by the major his-tocompatibility complex (MHC) that plays a pivotal role in the host's immune defense.Given that the MHC represents the most polymorphic region in the human genome, HLA typing is crucial in organ transplantation. It significantly influences graft rejection, graft-versus-host disease, and the overall patient outcome by mediating the discrimination between self and nonself. HLA typing technology began with serological methods and has evolved rapidly alongside advances in molecular technologies, progressing from DNA-based typing to next- or third-generation sequencing. These advancements have increased the accuracy of HLA typing and reduced ambiguities, leading to marked improvements in transplantation outcomes. Additionally, numerous novel HLA alleles have been identified. In this review, we explore the developmental history and future prospects of HLA typing technology, which promises to further benefit the field of transplantation.
6.A walk through the development of human leukocyte antigen typing: from serologic techniques to next-generation sequencing
Haeyoun CHOI ; Eun-Jeong CHOI ; Hyoung-Jae KIM ; In-Cheol BAEK ; Aegyeong WON ; Su Jin PARK ; Tai-Gyu KIM ; Yeun-Jun CHUNG
Clinical Transplantation and Research 2024;38(4):294-308
Human leukocyte antigen (HLA) is a group of glycoproteins encoded by the major his-tocompatibility complex (MHC) that plays a pivotal role in the host's immune defense.Given that the MHC represents the most polymorphic region in the human genome, HLA typing is crucial in organ transplantation. It significantly influences graft rejection, graft-versus-host disease, and the overall patient outcome by mediating the discrimination between self and nonself. HLA typing technology began with serological methods and has evolved rapidly alongside advances in molecular technologies, progressing from DNA-based typing to next- or third-generation sequencing. These advancements have increased the accuracy of HLA typing and reduced ambiguities, leading to marked improvements in transplantation outcomes. Additionally, numerous novel HLA alleles have been identified. In this review, we explore the developmental history and future prospects of HLA typing technology, which promises to further benefit the field of transplantation.
7.Distinct Impacts of Clinicopathological and Mutational Profiles on Long-Term Survival and Recurrence in Medullary Thyroid Carcinoma
Moon Young OH ; Kyong Yeun JUNG ; Hoonsung CHOI ; Young Jun CHAI ; Sun Wook CHO ; Su-jin KIM ; Kyu Eun LEE ; Eun-Jae CHUNG ; Do Joon PARK ; Young Joo PARK ; Han-Kwang YANG
Endocrinology and Metabolism 2024;39(6):877-890
Background:
Medullary thyroid carcinoma (MTC) has a poorer prognosis than differentiated thyroid cancers; however, comprehensive data on the long-term outcomes of MTC remain scarce. This study investigated the extended clinical outcomes of MTC and aimed to identify prognostic factors.
Methods:
Patients diagnosed with MTC between 1980 and 2020 were retrospectively reviewed. Their clinical characteristics, longterm clinical outcomes, and prognostic factors for recurrence and mortality were analyzed.
Results:
The study included 226 patients (144 women, 82 men). The disease-specific survival (DSS) rates for all MTC patients at 5-, 10-, 20-, and 30-year intervals were 92.7%, 89.4%, 74.3%, and 68.1%, respectively. The recurrence-free survival (RFS) rates were 71.1%, 56.1%, 40.2%, and 32.1% at these intervals. DSS was comparable between the groups from 1980–2009 and 2010–2020 (P=0.995); however, the 1980–2009 group had significantly lower RFS rates (P=0.031). The 2010–2020 group exhibited greater extents of surgical and lymph node dissection (P=0.003) and smaller tumors (P=0.003). Multivariate analysis identified extrathyroidal extension as the strongest prognostic factor for both RFS and DSS. Age >55 years and tumor size of ≥2 cm were also significant prognostic factors for DSS, while hereditary disease and lymph node metastasis were significant for RFS. Survival analysis after propensity-score matching of rearranged during transfection (RET)-negative and non-screened RET-positive groups showed comparable DSS but longer RFS in the RET-negative group.
Conclusion
Extrathyroidal extension was identified as the strongest prognostic factor for RFS and DSS. Older age and larger tumor size were associated with decreased DSS, while RET mutation and lymph node metastasis significantly impacted RFS.
8.A walk through the development of human leukocyte antigen typing: from serologic techniques to next-generation sequencing
Haeyoun CHOI ; Eun-Jeong CHOI ; Hyoung-Jae KIM ; In-Cheol BAEK ; Aegyeong WON ; Su Jin PARK ; Tai-Gyu KIM ; Yeun-Jun CHUNG
Clinical Transplantation and Research 2024;38(4):294-308
Human leukocyte antigen (HLA) is a group of glycoproteins encoded by the major his-tocompatibility complex (MHC) that plays a pivotal role in the host's immune defense.Given that the MHC represents the most polymorphic region in the human genome, HLA typing is crucial in organ transplantation. It significantly influences graft rejection, graft-versus-host disease, and the overall patient outcome by mediating the discrimination between self and nonself. HLA typing technology began with serological methods and has evolved rapidly alongside advances in molecular technologies, progressing from DNA-based typing to next- or third-generation sequencing. These advancements have increased the accuracy of HLA typing and reduced ambiguities, leading to marked improvements in transplantation outcomes. Additionally, numerous novel HLA alleles have been identified. In this review, we explore the developmental history and future prospects of HLA typing technology, which promises to further benefit the field of transplantation.
9.Distinct Impacts of Clinicopathological and Mutational Profiles on Long-Term Survival and Recurrence in Medullary Thyroid Carcinoma
Moon Young OH ; Kyong Yeun JUNG ; Hoonsung CHOI ; Young Jun CHAI ; Sun Wook CHO ; Su-jin KIM ; Kyu Eun LEE ; Eun-Jae CHUNG ; Do Joon PARK ; Young Joo PARK ; Han-Kwang YANG
Endocrinology and Metabolism 2024;39(6):877-890
Background:
Medullary thyroid carcinoma (MTC) has a poorer prognosis than differentiated thyroid cancers; however, comprehensive data on the long-term outcomes of MTC remain scarce. This study investigated the extended clinical outcomes of MTC and aimed to identify prognostic factors.
Methods:
Patients diagnosed with MTC between 1980 and 2020 were retrospectively reviewed. Their clinical characteristics, longterm clinical outcomes, and prognostic factors for recurrence and mortality were analyzed.
Results:
The study included 226 patients (144 women, 82 men). The disease-specific survival (DSS) rates for all MTC patients at 5-, 10-, 20-, and 30-year intervals were 92.7%, 89.4%, 74.3%, and 68.1%, respectively. The recurrence-free survival (RFS) rates were 71.1%, 56.1%, 40.2%, and 32.1% at these intervals. DSS was comparable between the groups from 1980–2009 and 2010–2020 (P=0.995); however, the 1980–2009 group had significantly lower RFS rates (P=0.031). The 2010–2020 group exhibited greater extents of surgical and lymph node dissection (P=0.003) and smaller tumors (P=0.003). Multivariate analysis identified extrathyroidal extension as the strongest prognostic factor for both RFS and DSS. Age >55 years and tumor size of ≥2 cm were also significant prognostic factors for DSS, while hereditary disease and lymph node metastasis were significant for RFS. Survival analysis after propensity-score matching of rearranged during transfection (RET)-negative and non-screened RET-positive groups showed comparable DSS but longer RFS in the RET-negative group.
Conclusion
Extrathyroidal extension was identified as the strongest prognostic factor for RFS and DSS. Older age and larger tumor size were associated with decreased DSS, while RET mutation and lymph node metastasis significantly impacted RFS.
10.Distinct Impacts of Clinicopathological and Mutational Profiles on Long-Term Survival and Recurrence in Medullary Thyroid Carcinoma
Moon Young OH ; Kyong Yeun JUNG ; Hoonsung CHOI ; Young Jun CHAI ; Sun Wook CHO ; Su-jin KIM ; Kyu Eun LEE ; Eun-Jae CHUNG ; Do Joon PARK ; Young Joo PARK ; Han-Kwang YANG
Endocrinology and Metabolism 2024;39(6):877-890
Background:
Medullary thyroid carcinoma (MTC) has a poorer prognosis than differentiated thyroid cancers; however, comprehensive data on the long-term outcomes of MTC remain scarce. This study investigated the extended clinical outcomes of MTC and aimed to identify prognostic factors.
Methods:
Patients diagnosed with MTC between 1980 and 2020 were retrospectively reviewed. Their clinical characteristics, longterm clinical outcomes, and prognostic factors for recurrence and mortality were analyzed.
Results:
The study included 226 patients (144 women, 82 men). The disease-specific survival (DSS) rates for all MTC patients at 5-, 10-, 20-, and 30-year intervals were 92.7%, 89.4%, 74.3%, and 68.1%, respectively. The recurrence-free survival (RFS) rates were 71.1%, 56.1%, 40.2%, and 32.1% at these intervals. DSS was comparable between the groups from 1980–2009 and 2010–2020 (P=0.995); however, the 1980–2009 group had significantly lower RFS rates (P=0.031). The 2010–2020 group exhibited greater extents of surgical and lymph node dissection (P=0.003) and smaller tumors (P=0.003). Multivariate analysis identified extrathyroidal extension as the strongest prognostic factor for both RFS and DSS. Age >55 years and tumor size of ≥2 cm were also significant prognostic factors for DSS, while hereditary disease and lymph node metastasis were significant for RFS. Survival analysis after propensity-score matching of rearranged during transfection (RET)-negative and non-screened RET-positive groups showed comparable DSS but longer RFS in the RET-negative group.
Conclusion
Extrathyroidal extension was identified as the strongest prognostic factor for RFS and DSS. Older age and larger tumor size were associated with decreased DSS, while RET mutation and lymph node metastasis significantly impacted RFS.

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