1.Components of tumor stroma-immune microenvironment and their interactions in intrahepatic cholangiocarcinoma
Qiulu ZHANG ; Zhuo LI ; Congrong LIU ; Limei GUO
Journal of Clinical Hepatology 2025;41(3):594-600
Intrahepatic cholangiocarcinoma (ICC) is a highly malignant liver tumor, and due to the absence of symptoms in its early stage and the lack of effective treatment measures, patients tend to have an extremely low 5-year survival rate. The tumor stroma-immune microenvironment (TSIME) is a complex ecosystem that changes dynamically during tumorigenesis and evolution and consists of a variety of cellular and non-cellular components, and it plays an important role in the development, proliferation, invasion, and progression of ICC and determines the heterogeneity and malignancy of ICC to a certain degree. This article reviews the cellular components (such as T cells, B cells, natural killer cells, dendritic cells, neutrophils, macrophages, myeloid-derived suppressor cells) and non-cellular components (such as chemokines and cytokines) within the ICC TSIME, as well as the complex mechanisms of interaction between these components, and it also reviews the spatial interactions between immune cells and tumor cells, in order to provide potential research directions for ICC immunotherapy and new ideas for the effective and precise treatment of ICC in the future.
2.Cervical embryonal rhabdomyosarcoma: a clinicopathological and molecular analysis of three cases
Haoxiang LI ; Ajin HU ; Congrong LIU
Chinese Journal of Pathology 2025;54(8):825-830
Objective:To investigate the clinicopathological characteristics and molecular genetic alterations of cervical embryonal rhabdomyosarcoma (ERMS).Methods:Three cases of cervical ERMS diagnosed at Peking University Third Hospital from April 2017 to April 2023 were retrospectively analyzed. Clinicopathological data, molecular genetics, treatments, and follow-up information were examined.Results:Three patients with cervical ERMS, aged 17, 15, and 23 years, respectively, were included. All presented with polypoid masses at the vaginal opening. Histologically, oval or short-fusiform tumor cells in myxedematous stroma were arranged in dense and sparse regions, accompanied by various degrees of rhabdomyoblastic differentiation. Immunohistochemically, MyoD1, Myogenin and Myoglobin were expressed in all 3 tumors. The DICER1 gene mutation was detected in all 3 tumors, while the DICER1 germline mutation was detected only in 2 cases. All patients received local resection and adjuvant chemotherapies. The follow-up period was 10-76 months. One patient experienced local recurrence, and two remained disease-free.Conclusions:Cervical ERMS predominantly affects young females and commonly presents as a prolapsed polypoid cervical lesion. It demonstrates distinctive molecular genetic characteristics, most frequently DICER1 mutations, and shows a strong association with the DICER1 syndrome.
3.Advances in the study of ovarian seromucinous tumors:historical context,current status analysis and future prospects
Chinese Journal of Clinical and Experimental Pathology 2025;41(4):421-426,431
Ovarian seromucinous tumors are a group of ovarian epithelial tumors that primarily affect young women of childbearing age.The nomenclature and classification of these tumors undergone a complex historical evolution.Due to their diverse and complex morphological features,pathologists often encountered difficulties in applying diagnostic criteria.As a result,underdiagnosis and misdiagnosis were common in current clinical practice,which may even affect the choice of treatment for patients.This article aims to provide a detailed account of the historical changes in the no-menclature of ovarian seromucinous tumors,the common diagnostic challenges encountered in current clinical practice and their corresponding strategies,as well as to explore potential future research directions.It is hoped that this will enhance the understanding of these diseases among pathologists and gynecologists,and provide guidance for the formu-lation of appropriate treatment strategies and further scientific research.
4.Advances in the study of ovarian seromucinous tumors:historical context,current status analysis and future prospects
Chinese Journal of Clinical and Experimental Pathology 2025;41(4):421-426,431
Ovarian seromucinous tumors are a group of ovarian epithelial tumors that primarily affect young women of childbearing age.The nomenclature and classification of these tumors undergone a complex historical evolution.Due to their diverse and complex morphological features,pathologists often encountered difficulties in applying diagnostic criteria.As a result,underdiagnosis and misdiagnosis were common in current clinical practice,which may even affect the choice of treatment for patients.This article aims to provide a detailed account of the historical changes in the no-menclature of ovarian seromucinous tumors,the common diagnostic challenges encountered in current clinical practice and their corresponding strategies,as well as to explore potential future research directions.It is hoped that this will enhance the understanding of these diseases among pathologists and gynecologists,and provide guidance for the formu-lation of appropriate treatment strategies and further scientific research.
5.Clinical value of fluorescent PCR-capillary electrophoresis for detecting POLE mutations in endometrial carcinoma
Ajin HU ; Yan LIU ; Congrong LIU
Chinese Journal of Pathology 2025;54(12):1324-1329
Objective:To investigate the clinical values of fluorescent PCR-capillary electrophoresis (PCR/CE) for detecting somatic mutations in the proofreading exonuclease domain of DNA polymerase epsilon (POLE-exo*) in endometrial carcinomas (EC), as compared with Sanger sequencing.Methods:A total of 280 EC cases diagnosed at the Department of Pathology at Peking University Third Hospital, Beijing, China from December 2022 to December 2023 were collected. Ten cases, which had previously been confirmed to harbor POLE pathogenic mutations through next-generation sequencing (NGS), were excluded. Subsequently, parallel sequencing using both PCR/CE and Sanger sequencing methods was conducted on the remaining 270 EC samples without prior POLE testing, aiming to examine 11 known pathogenic mutation-sites located within exons 9, 11, 13, and 14 of the POLE gene. NGS was then carried out on the EC cases in which the PCR/CE and/or Sanger sequencing results indicated the presence of POLE-exo*.Results:Among the 270 EC samples, POLE-exo* was detected in 4 cases (4/270, 1.5%) using Sanger sequencing. In contrast, the PCR/CE identified POLE-exo* in 12 cases (12/270, 4.4%). It was noteworthy that all cases in which POLE-exo* was detected through Sanger sequencing were also successfully identified using PCR/CE (4/4, with a detection rate of 100%). These results were further verified by NGS. The PCR/CE also uncovered an additional 8 cases (8/266, 3.0%) of POLE-exo* in the 266 samples that were negative for POLE mutations per Sanger sequencing. Of these 8 cases, 4 were validated using NGS, exhibiting variant allele frequency (VAF) below 10%, but tumor mutation burdens exceeding 10 mutations per megabase. However, due to small tumor sizes, NGS verification could not be performed on the remaining 4 PCR/CE-positive but Sanger-negative cases.Conclusion:The PCR/CE exhibits better sensitivity and detection capabilities than the Sanger sequencing in identifying POLE-exo* in EC samples, particularly in detecting low VAF.
6.Cervical embryonal rhabdomyosarcoma: a clinicopathological and molecular analysis of three cases
Haoxiang LI ; Ajin HU ; Congrong LIU
Chinese Journal of Pathology 2025;54(8):825-830
Objective:To investigate the clinicopathological characteristics and molecular genetic alterations of cervical embryonal rhabdomyosarcoma (ERMS).Methods:Three cases of cervical ERMS diagnosed at Peking University Third Hospital from April 2017 to April 2023 were retrospectively analyzed. Clinicopathological data, molecular genetics, treatments, and follow-up information were examined.Results:Three patients with cervical ERMS, aged 17, 15, and 23 years, respectively, were included. All presented with polypoid masses at the vaginal opening. Histologically, oval or short-fusiform tumor cells in myxedematous stroma were arranged in dense and sparse regions, accompanied by various degrees of rhabdomyoblastic differentiation. Immunohistochemically, MyoD1, Myogenin and Myoglobin were expressed in all 3 tumors. The DICER1 gene mutation was detected in all 3 tumors, while the DICER1 germline mutation was detected only in 2 cases. All patients received local resection and adjuvant chemotherapies. The follow-up period was 10-76 months. One patient experienced local recurrence, and two remained disease-free.Conclusions:Cervical ERMS predominantly affects young females and commonly presents as a prolapsed polypoid cervical lesion. It demonstrates distinctive molecular genetic characteristics, most frequently DICER1 mutations, and shows a strong association with the DICER1 syndrome.
7.Clinical value of fluorescent PCR-capillary electrophoresis for detecting POLE mutations in endometrial carcinoma
Ajin HU ; Yan LIU ; Congrong LIU
Chinese Journal of Pathology 2025;54(12):1324-1329
Objective:To investigate the clinical values of fluorescent PCR-capillary electrophoresis (PCR/CE) for detecting somatic mutations in the proofreading exonuclease domain of DNA polymerase epsilon (POLE-exo*) in endometrial carcinomas (EC), as compared with Sanger sequencing.Methods:A total of 280 EC cases diagnosed at the Department of Pathology at Peking University Third Hospital, Beijing, China from December 2022 to December 2023 were collected. Ten cases, which had previously been confirmed to harbor POLE pathogenic mutations through next-generation sequencing (NGS), were excluded. Subsequently, parallel sequencing using both PCR/CE and Sanger sequencing methods was conducted on the remaining 270 EC samples without prior POLE testing, aiming to examine 11 known pathogenic mutation-sites located within exons 9, 11, 13, and 14 of the POLE gene. NGS was then carried out on the EC cases in which the PCR/CE and/or Sanger sequencing results indicated the presence of POLE-exo*.Results:Among the 270 EC samples, POLE-exo* was detected in 4 cases (4/270, 1.5%) using Sanger sequencing. In contrast, the PCR/CE identified POLE-exo* in 12 cases (12/270, 4.4%). It was noteworthy that all cases in which POLE-exo* was detected through Sanger sequencing were also successfully identified using PCR/CE (4/4, with a detection rate of 100%). These results were further verified by NGS. The PCR/CE also uncovered an additional 8 cases (8/266, 3.0%) of POLE-exo* in the 266 samples that were negative for POLE mutations per Sanger sequencing. Of these 8 cases, 4 were validated using NGS, exhibiting variant allele frequency (VAF) below 10%, but tumor mutation burdens exceeding 10 mutations per megabase. However, due to small tumor sizes, NGS verification could not be performed on the remaining 4 PCR/CE-positive but Sanger-negative cases.Conclusion:The PCR/CE exhibits better sensitivity and detection capabilities than the Sanger sequencing in identifying POLE-exo* in EC samples, particularly in detecting low VAF.
8.Giant gouty liquid tophus occurring in both lower legs: One rare case report
Zibing SONG ; Duoduo LIU ; Tingting SHEN ; Congrong WANG
Chinese Journal of Endocrinology and Metabolism 2024;40(9):789-792
A case of giant liquid tophus in both lower legs was reported. The patient was a 41-year-old man with a history of gout for more than 10 years. The patient had hyperlipidemia and prediabetes, and the long-term use of hormone cortisol drugs was suspected. After standardized treatment for lowering uric acid, reducing blood lipids, and correcting glucose intolerance, the patient lost 12 kg over six months. The patient was admitted to the hospital upon discovering symmetrical enlargement of both calves. Ultrasound showed subcutaneous masses with clear boundaries behind the gastrocnemius muscle, approximately 14.9 cm×6.7 cm on the left and 13.6 cm×4.6 cm on the right. Based on the clinical information and morphological features, a diagnosis of gouty tophus was made. Following ultrasound-guided puncture drainage, aspirate about 200 mL fluid from the subcutaneous masses of each lower legs. The patient continued to receive standardized uric acid-lowering treatment and the patient′s condition improved. For such atypical giant liquid tophus, clinical practitioners should remain vigilant, differentiating them from tumors, infections, autoimmune diseases, and promptly perform pathological examinations through puncture to be diagnosed. After a definitive diagnosis, surgical excision can be performed concurrently with standardized uric acid-lowering treatment to achieve a favorable prognosis.
9.Clinicopathological significance of SOX2 and FOXG1 expression patterns in ovarian immature teratomas
Xiaojie SUN ; Yan LIU ; Congrong LIU
Chinese Journal of Pathology 2024;53(12):1203-1209
Objective:To investigate the relationship between the expression patterns of SOX2 and FOXG1 and the differentiation/development level of neural components in immature teratoma and to determine the clinical significance and potential application of this correlation in a clinical setting.Methods:We conducted a comprehensive whole transcriptome sequencing analysis to identify differentially expressed genes (DEGs) across various subtypes of ovarian germ cell tumors. Additionally, immunohistochemical staining of paraffin-embedded tissue sections was employed to assess the nuclear staining pattern of SOX2 and FOXG1 proteins within the tumor tissues.Results:The transcriptome sequencing data showed that transcription factors SOX2 and FOXG1 exhibited high levels of expression typically in immature teratoma and occupied a pivotal position within the protein-protein interaction network. Immunohistochemical staining revealed the absence of both SOX2 and FOXG1 protein expression in dysgerminoma and yolk sac tumor samples. In immature teratoma, immunohistochemical staining demonstrated diffuse expression of SOX2 and FOXG1 proteins within the inner layer of densely-arranged primitive neuroepithelial tubules. This pattern of expression suggested the presence of stem cell-like properties within these tumor cells. In the sparsely peripheral neurogliocytes, FOXG1 maintained a diffuse nuclear staining pattern resembling that of neuroepithelial cells, while SOX2 exhibited a scattered pattern of positive staining, hinting at a neural lineage differentiation potential. This spatial differential expression pattern of SOX2 and FOXG1 proteins in immature teratoma suggested that primitive neural components within these tumors often recapitulated the trajectory of neural formation and cortical development that was typically observed during embryogenesis. The primitive neural tube acted as the center that constantly moved from inside to outside, with a dynamic shift from the interior to the exterior, paralleled by the sequential differentiation of cell lineages from primitive neuroepithelial stem cells to radial glia, intermediate progenitor cells, and ultimately to precursor glia.Conclusions:This spatial expression pattern of SOX2 and FOXG1 proteins observed in immature teratoma mirrors the lineage differentiation and migration trajectories of primitive neuroepithelial components typically seen in embryonic neurogenesis and cortical development. In daily practice, the combined application of SOX2 and FOXG1 SOX2 and FOXG1 helps identify the primitive neuroepithelial components in immature teratoma, avoid misjudgment of similar morphologies, and thereby assist in the histological grading and clinical decision-making.
10.Chinese expert consensus on diagnosis, treatment and prevention of venous thrombus embolism associated with chest trauma (2022 version)
Kaibin LIU ; Yi YANG ; Hui LI ; Yonten TSRING ; Zhiming CHEN ; Hao CHEN ; Xinglong FAN ; Congrong GAO ; Chundong GU ; Yutong GU ; Guangwei GUO ; Zhanlin GUO ; Jian HU ; Ping HU ; Hai HUANG ; Lijun HUANG ; Weiwei HE ; Longyu JIN ; Baoli JING ; Zhigang LIANG ; Feng LIN ; Wenpan LIU ; Danqing LI ; Xiaoliang LI ; Zhenyu LI ; Haitao MA ; Guibin QIAO ; Zheng RUAN ; Gang SUI ; Dongbin WANG ; Mingsong WANG ; Lei XUE ; Fei XIA ; Enwu XU ; Quan XU ; Jun YI ; Yunfeng YI ; Jianguo ZHANG ; Dongsheng ZHANG ; Qiang ZHANG ; Zhiming ZHOU ; Zhiqiang ZOU
Chinese Journal of Trauma 2022;38(7):581-591
Chest trauma is one of the most common injuries. Venous thromboembolism (VTE) as a common complication of chest trauma seriously affects the quality of patients′ life and even leads to death. Although there are some consensus and guidelines on the prevention and treatment of VTE at home and abroad, the current literatures lack specificity considering the diagnosis, treatment and prevention of VTE in patients with chest trauma have their own characteristics, especially for those with blunt trauma. Accordingly, China Chest Injury Research Society and editorial board of Chinese Journal of Traumatology organized relevant domestic experts to jointly formulate the Chinese expert consensus on the diagnosis, treatment and prevention of chest trauma venous thromboembolism associated with chest trauma (2022 version). This consensus provides expert recommendations of different levels as academic guidance in terms of the characteristics, clinical manifestations, risk assessment, diagnosis, treatment, and prevention of chest trauma-related VTE, so as to offer a reference for clinical application.

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