1.Postmortem Next-Generation Sequencing in an Autopsy Case with Hypertrophic Cardiomyopathy
Junghye LEE ; Chaehyun PARK ; Kyung-moo YANG
Korean Journal of Legal Medicine 2023;47(3):79-82
Postmor tem next-generation sequencing (NGS) plays a crucial role in uncovering previously unidentified genetic causes of death. It provides essential findings useful for counseling affected family members and advancing our understanding of genetic diseases. In this report, we present the first documented autopsy case of hypertrophic cardiomyopathy (HCM) in South Korea in which postmortem NGS was used to identify a novel mutation. A 40-year-old male with no relevant medical history experienced sudden death at home. The autopsy revealed cardiac findings consistent with HCM but no other potential causes of sudden death. Through postmortem NGS analysis, a novel pathogenic mutation, c.2833_2834del, in MYBPC3 gene, was discovered; hence, this serves as the first report of this mutation in a Korean population. This finding not only confirms the diagnosis of HCM but also provides a plausible explanation for the sudden death. Given the hereditary nature of HCM, genetic counseling is strongly recommended, especially for the deceased’s nine-year-old son, who has a 50% risk of inheriting the mutation. This case underscores the critical role of postmortem NGS in the field of forensic medicine. The significance of NGS and necessity for integration into autopsy investigations are highlighted.
2.Craniofacial Identification Technique Can Be a Complementary Tool for Reconstruction of Cranial Gunshot Wound and Evidence Presentation: Two Case Reports
Sohyung PARK ; Goeun LEE ; Won Joon LEE ; Junghye LEE
Korean Journal of Legal Medicine 2025;49(1):21-27
This case study highlights craniofacial identification technology (CFIT) as a complementary and translational tool for reconstruction of cranial gunshot wounds (GSWs) and presenting evidence beyond forensic identification. In forensic cases involving GSWs, a visual demonstration of the bullet trajectory can improve communication between forensic pathologists and non-medical judicial agencies and the court. Postmortem computed tomography (PMCT) images and autopsy images are essential medical evidence, providing a robust visual display of the GSW and its bullet trajectory. PMCT images are useful for identifying the precise projectile localization and characteristics of bone fractures. However, PMCT images may not adequately present soft tissue injuries well, and autopsy images can be unpleasant to non-medical professionals, making it difficult for them to understand such specialized scientific evidence. CFIT is a well-established scientific tool with which forensic experts in craniofacial identification can create more advanced reconstructed three-dimensional (3D) images based on both postmortem findings and PMCT data. Intracranial bullet trajectory can be shown simply and directly in reconstructed 3D cranial images. CFIT can serve as an adjunctive tool to overcome the limitations of both PMCT images and autopsy images, thereby facilitating better understanding of such specialized medical evidence by non-medical professionals. Here, we present two cases of head GSWs, in which CFIT was newly implemented to reconstruct the cranial GSW including bullet trajectory, for evidence presentation—expanding its traditional use in forensic identification. Therefore, CFIT can help provide better forensic medical services for non-medical professionals.
3.Prevalence of Tuberculosis at Forensic Autopsies in South Korea from 2019–2023
Kyunghong LEE ; Jong-Pil PARK ; Kiha KIM ; Junghye KIM
Korean Journal of Legal Medicine 2025;49(2):40-45
Tuberculosis (TB) remains a significant global health issue, with undiagnosed cases posing risks to public health and forensic personnel. Forensic autopsies are important in identifying TB cases, as undetected infections in deceased individuals can lead to occupational exposure through aerosolized transmission. However, TB surveillance in forensic autopsies remains insufficient, limiting its recognition in public health strategies. This study analyzed 43,190 forensic autopsies conducted in South Korea from 2019-2023, identifying 195 TB cases (0.45%), including 114 deaths (0.26%) primarily caused by TB. The highest prevalence was recorded in 2019 (0.59%), with a gradual decline in subsequent years. Regional analysis showed that Incheon had the highest TB prevalence (0.74%). Pulmonary TB was the most common (80.77%), followed by miliary TB (15.38%). These findings highlight the potential occupational risks for forensic personnel because of undiagnosed TB infections. Notably, 72.3% of TB cases were identified postmortem without previous medical records, increasing the likelihood of unprotected exposure. Additionally, forensic investigations often lack systematic reporting of TB cases, making it difficult to assess the true prevalence and risks. Strengthening TB monitoring in forensic autopsies can enhance case identification and improve public health surveillance. Establishing a more structured reporting system for TB cases in forensic settings may help prevent occupational exposure and support national TB control efforts.
4.Craniofacial Identification Technique Can Be a Complementary Tool for Reconstruction of Cranial Gunshot Wound and Evidence Presentation: Two Case Reports
Sohyung PARK ; Goeun LEE ; Won Joon LEE ; Junghye LEE
Korean Journal of Legal Medicine 2025;49(1):21-27
This case study highlights craniofacial identification technology (CFIT) as a complementary and translational tool for reconstruction of cranial gunshot wounds (GSWs) and presenting evidence beyond forensic identification. In forensic cases involving GSWs, a visual demonstration of the bullet trajectory can improve communication between forensic pathologists and non-medical judicial agencies and the court. Postmortem computed tomography (PMCT) images and autopsy images are essential medical evidence, providing a robust visual display of the GSW and its bullet trajectory. PMCT images are useful for identifying the precise projectile localization and characteristics of bone fractures. However, PMCT images may not adequately present soft tissue injuries well, and autopsy images can be unpleasant to non-medical professionals, making it difficult for them to understand such specialized scientific evidence. CFIT is a well-established scientific tool with which forensic experts in craniofacial identification can create more advanced reconstructed three-dimensional (3D) images based on both postmortem findings and PMCT data. Intracranial bullet trajectory can be shown simply and directly in reconstructed 3D cranial images. CFIT can serve as an adjunctive tool to overcome the limitations of both PMCT images and autopsy images, thereby facilitating better understanding of such specialized medical evidence by non-medical professionals. Here, we present two cases of head GSWs, in which CFIT was newly implemented to reconstruct the cranial GSW including bullet trajectory, for evidence presentation—expanding its traditional use in forensic identification. Therefore, CFIT can help provide better forensic medical services for non-medical professionals.
5.Prevalence of Tuberculosis at Forensic Autopsies in South Korea from 2019–2023
Kyunghong LEE ; Jong-Pil PARK ; Kiha KIM ; Junghye KIM
Korean Journal of Legal Medicine 2025;49(2):40-45
Tuberculosis (TB) remains a significant global health issue, with undiagnosed cases posing risks to public health and forensic personnel. Forensic autopsies are important in identifying TB cases, as undetected infections in deceased individuals can lead to occupational exposure through aerosolized transmission. However, TB surveillance in forensic autopsies remains insufficient, limiting its recognition in public health strategies. This study analyzed 43,190 forensic autopsies conducted in South Korea from 2019-2023, identifying 195 TB cases (0.45%), including 114 deaths (0.26%) primarily caused by TB. The highest prevalence was recorded in 2019 (0.59%), with a gradual decline in subsequent years. Regional analysis showed that Incheon had the highest TB prevalence (0.74%). Pulmonary TB was the most common (80.77%), followed by miliary TB (15.38%). These findings highlight the potential occupational risks for forensic personnel because of undiagnosed TB infections. Notably, 72.3% of TB cases were identified postmortem without previous medical records, increasing the likelihood of unprotected exposure. Additionally, forensic investigations often lack systematic reporting of TB cases, making it difficult to assess the true prevalence and risks. Strengthening TB monitoring in forensic autopsies can enhance case identification and improve public health surveillance. Establishing a more structured reporting system for TB cases in forensic settings may help prevent occupational exposure and support national TB control efforts.
6.Craniofacial Identification Technique Can Be a Complementary Tool for Reconstruction of Cranial Gunshot Wound and Evidence Presentation: Two Case Reports
Sohyung PARK ; Goeun LEE ; Won Joon LEE ; Junghye LEE
Korean Journal of Legal Medicine 2025;49(1):21-27
This case study highlights craniofacial identification technology (CFIT) as a complementary and translational tool for reconstruction of cranial gunshot wounds (GSWs) and presenting evidence beyond forensic identification. In forensic cases involving GSWs, a visual demonstration of the bullet trajectory can improve communication between forensic pathologists and non-medical judicial agencies and the court. Postmortem computed tomography (PMCT) images and autopsy images are essential medical evidence, providing a robust visual display of the GSW and its bullet trajectory. PMCT images are useful for identifying the precise projectile localization and characteristics of bone fractures. However, PMCT images may not adequately present soft tissue injuries well, and autopsy images can be unpleasant to non-medical professionals, making it difficult for them to understand such specialized scientific evidence. CFIT is a well-established scientific tool with which forensic experts in craniofacial identification can create more advanced reconstructed three-dimensional (3D) images based on both postmortem findings and PMCT data. Intracranial bullet trajectory can be shown simply and directly in reconstructed 3D cranial images. CFIT can serve as an adjunctive tool to overcome the limitations of both PMCT images and autopsy images, thereby facilitating better understanding of such specialized medical evidence by non-medical professionals. Here, we present two cases of head GSWs, in which CFIT was newly implemented to reconstruct the cranial GSW including bullet trajectory, for evidence presentation—expanding its traditional use in forensic identification. Therefore, CFIT can help provide better forensic medical services for non-medical professionals.
7.Prevalence of Tuberculosis at Forensic Autopsies in South Korea from 2019–2023
Kyunghong LEE ; Jong-Pil PARK ; Kiha KIM ; Junghye KIM
Korean Journal of Legal Medicine 2025;49(2):40-45
Tuberculosis (TB) remains a significant global health issue, with undiagnosed cases posing risks to public health and forensic personnel. Forensic autopsies are important in identifying TB cases, as undetected infections in deceased individuals can lead to occupational exposure through aerosolized transmission. However, TB surveillance in forensic autopsies remains insufficient, limiting its recognition in public health strategies. This study analyzed 43,190 forensic autopsies conducted in South Korea from 2019-2023, identifying 195 TB cases (0.45%), including 114 deaths (0.26%) primarily caused by TB. The highest prevalence was recorded in 2019 (0.59%), with a gradual decline in subsequent years. Regional analysis showed that Incheon had the highest TB prevalence (0.74%). Pulmonary TB was the most common (80.77%), followed by miliary TB (15.38%). These findings highlight the potential occupational risks for forensic personnel because of undiagnosed TB infections. Notably, 72.3% of TB cases were identified postmortem without previous medical records, increasing the likelihood of unprotected exposure. Additionally, forensic investigations often lack systematic reporting of TB cases, making it difficult to assess the true prevalence and risks. Strengthening TB monitoring in forensic autopsies can enhance case identification and improve public health surveillance. Establishing a more structured reporting system for TB cases in forensic settings may help prevent occupational exposure and support national TB control efforts.
8.Craniofacial Identification Technique Can Be a Complementary Tool for Reconstruction of Cranial Gunshot Wound and Evidence Presentation: Two Case Reports
Sohyung PARK ; Goeun LEE ; Won Joon LEE ; Junghye LEE
Korean Journal of Legal Medicine 2025;49(1):21-27
This case study highlights craniofacial identification technology (CFIT) as a complementary and translational tool for reconstruction of cranial gunshot wounds (GSWs) and presenting evidence beyond forensic identification. In forensic cases involving GSWs, a visual demonstration of the bullet trajectory can improve communication between forensic pathologists and non-medical judicial agencies and the court. Postmortem computed tomography (PMCT) images and autopsy images are essential medical evidence, providing a robust visual display of the GSW and its bullet trajectory. PMCT images are useful for identifying the precise projectile localization and characteristics of bone fractures. However, PMCT images may not adequately present soft tissue injuries well, and autopsy images can be unpleasant to non-medical professionals, making it difficult for them to understand such specialized scientific evidence. CFIT is a well-established scientific tool with which forensic experts in craniofacial identification can create more advanced reconstructed three-dimensional (3D) images based on both postmortem findings and PMCT data. Intracranial bullet trajectory can be shown simply and directly in reconstructed 3D cranial images. CFIT can serve as an adjunctive tool to overcome the limitations of both PMCT images and autopsy images, thereby facilitating better understanding of such specialized medical evidence by non-medical professionals. Here, we present two cases of head GSWs, in which CFIT was newly implemented to reconstruct the cranial GSW including bullet trajectory, for evidence presentation—expanding its traditional use in forensic identification. Therefore, CFIT can help provide better forensic medical services for non-medical professionals.
9.Prevalence of Tuberculosis at Forensic Autopsies in South Korea from 2019–2023
Kyunghong LEE ; Jong-Pil PARK ; Kiha KIM ; Junghye KIM
Korean Journal of Legal Medicine 2025;49(2):40-45
Tuberculosis (TB) remains a significant global health issue, with undiagnosed cases posing risks to public health and forensic personnel. Forensic autopsies are important in identifying TB cases, as undetected infections in deceased individuals can lead to occupational exposure through aerosolized transmission. However, TB surveillance in forensic autopsies remains insufficient, limiting its recognition in public health strategies. This study analyzed 43,190 forensic autopsies conducted in South Korea from 2019-2023, identifying 195 TB cases (0.45%), including 114 deaths (0.26%) primarily caused by TB. The highest prevalence was recorded in 2019 (0.59%), with a gradual decline in subsequent years. Regional analysis showed that Incheon had the highest TB prevalence (0.74%). Pulmonary TB was the most common (80.77%), followed by miliary TB (15.38%). These findings highlight the potential occupational risks for forensic personnel because of undiagnosed TB infections. Notably, 72.3% of TB cases were identified postmortem without previous medical records, increasing the likelihood of unprotected exposure. Additionally, forensic investigations often lack systematic reporting of TB cases, making it difficult to assess the true prevalence and risks. Strengthening TB monitoring in forensic autopsies can enhance case identification and improve public health surveillance. Establishing a more structured reporting system for TB cases in forensic settings may help prevent occupational exposure and support national TB control efforts.
10.Histologically confirmed distant metastatic urothelial carcinoma from the urinary bladder: a retrospective review of one institution’s 20-year experience
Youngeun YOO ; Junghye LEE ; Heae Surng PARK ; Min-Sun CHO ; Sun Hee SUNG ; Sanghui PARK ; Euno CHOI
Journal of Pathology and Translational Medicine 2021;55(2):94-101
Background:
Urothelial carcinoma (UC) accounts for roughly 90% of bladder cancer, and has a high propensity for diverse differentiation. Recently, certain histologic variants of UC have been recognized to be associated with unfavorable clinical outcomes. Several UC studies have also suggested that tumor budding is a poor prognostic marker. Distant metastasis of UC after radical cystectomy is not uncommon. However, these metastatic lesions are not routinely confirmed with histology.
Methods:
We investigated the histopathologic features of 13 cases of UC with biopsy-proven distant metastases, with a special emphasis on histologic variants and tumor budding.
Results:
Lymph nodes (6/13, 46%) were the most common metastatic sites, followed by the lung (4/13, 31%), liver (4/13, 31%), and the adrenal gland (2/13, 15%). The histologic variants including squamous (n=1), micropapillary (n=4), and plasmacytoid (n=1) variants in five cases of UC. Most histologic variants (4/5, 80%) of primary UCs appeared in the metastatic lesions. In contrast, high-grade tumor budding was detected in six cases (46%), including one case of non-muscle invasive UC. Our study demonstrates that histologic variants are not uncommonly detected in distant metastatic UCs. Most histologic variants seen in primary UCs persist in the distant metastatic lesions. In addition, high-grade tumor budding, which occurs frequently in primary tumors, may contribute to the development of distant metastasis.
Conclusions
Therefore, assessing the presence or absence of histologic variants and tumor budding in UCs of the urinary bladder, even in non-muscle invasive UCs, may be useful to predict distant metastasis.