1.Application Characteristics and Patterns of Marketed Traditional Chinese Patent Medicines for Treating Abortion
Changyue SONG ; Shuangfei DENG ; Siyu LI ; Daiyue DING ; Jinghong XIE ; Xiaohui SU ; Xiangying KONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):244-251
ObjectiveThis paper aims to analyze the variety characteristics and prescription patterns of marketed traditional Chinese patent medicines for treating abortion and provide references for new medicine development and clinical application. MethodsRelevant information of traditional Chinese patent medicines for treating abortion was systematically retrieved and collected. Microsoft Excel 2021 software was used to sort and statistically analyze the medicine syndrome types, quantity, market situation, and status of package inserts. Based on the Ancient and Modern Medical Case Cloud Platform (V2.3.9), the medicine properties, flavors, meridian tropism, and medication characteristics of standardized prescriptions were analyzed. ResultsA total of 39 marketed traditional Chinese patent medicines for treating abortion in China were included. According to disease type, these medicines were categorized as therapeutic medicines for threatened abortion and recurrent spontaneous abortion. According to clinical function, they were categorized into three groups: fetus stabilization, blood nourishment, and adjunctive conditioning. They were also categorized into pre-pregnancy conditioning and post-pregnancy fetal maintenance by clinical intervention stage. Post-marketing research showed that only three products had undergone safety evaluations and one involved pharmacoeconomic research, indicating a general lack of standardized evidence-based data. Dosage forms were mainly pills and granules. Package insert analysis revealed that 15 products listed "contraindications", while 28 included "precautions". Based on prescription inclusion and exclusion criteria, 25 products were selected for further analysis. Their therapeutic effects were mainly concentrated on "tonifying the kidney and spleen, replenishing Qi, and nourishing blood", with core medicines including Paeoniae Radix Alba, Angelicae Sinensis Radix, and Atractylodis Macrocephalae Rhizoma. Most medicines were warm or neutral in nature, predominantly sweet and pungent in flavor, and mainly entered the spleen, liver, and kidney meridians. ConclusionTraditional Chinese patent medicines for treating abortion demonstrate clear clinical value. However, shortcomings remain, including insufficient post-marketing research, prescription homogeneity, and incomplete package inserts. Future efforts should establish a clinically value-oriented modern development pathway, strengthen safety surveillance and evidence evaluation, improve package inserts, and promote precision use to further enhance clinical value.
2.Analysis of Variety Characteristics and Patterns of Marketed Traditional Chinese Patent Medicines for Treating Chronic Gastritis
Daiyue DING ; Changyue SONG ; Shuangfei DENG ; Siyu LI ; Xiangying KONG ; Xiaohui SU ; Na LIN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):252-260
ObjectiveThis study aims to systematically review the marketed traditional Chinese patent medicines for treating chronic gastritis (CG) in China. By analyzing their variety characteristics and prescription patterns, it seeks to provide references for clinical syndrome differentiation-based drug selection, treatment method optimization, and the design of high-quality clinical research. MethodsInformation on marketed traditional Chinese patent medicines for treating CG was collected. Microsoft Excel software was used to collate and statistically analyze representative drugs for each pathological stage, market status, syndrome types, and other contents. The Ancient and Modern Medical Case Cloud Platform (V2.3.9) was employed to analyze the formula composition patterns of standardized prescriptions. ResultsA total of 141 marketed traditional Chinese patent medicines for treating CG in China were included. Based on the disease's pathological progression, they can be classified into drugs for non-atrophic gastritis, atrophic gastritis, and precancerous lesions. Post-marketing research reveals that relevant evaluation is only conducted on 17 drugs, of which 2 involve pharmacoeconomic studies and 14 possess standardized evidence-based evidence. The primary dosage forms were capsules, granules, and tablets. From the 100 prescriptions screened according to inclusion/exclusion criteria, the varieties indicated for the stomach collateral stasis syndrome in atrophic gastritis accounted for the highest proportion. The main efficacy distributions were clearing heat, detoxifying, and relieving pain by promoting Qi circulation. Core drugs included Glycyrrhizae Radix et Rhizome, Paeoniae Radix Alba, and Aucklandiae Radix. Medicinal properties were predominantly warm and neutral. Flavors were mainly bitter, pungent, and sweet. The drugs primarily entered the spleen and stomach meridians. Analysis of the package inserts reveals that 67 products list "contraindications", 110 include "precautions", and 23 explicitly state "adverse reactions". ConclusionTraditional Chinese patent medicines for treating CG hold unique value in clinical practice. However, currently there are challenges such as insufficient clarity in syndrome type descriptions within package inserts and a relative lack of high-level evidence-based medical evidence, as well as pharmacoeconomic evaluations. Future efforts should focus on addressing these shortcomings by advancing research on syndrome characteristics and medication patterns based on syndrome differentiation, systematically conducting pharmacoeconomic evaluations, strengthening the accumulation of high-level evidence-based evidence, and, on this basis, improving patient medication adherence. This will comprehensively enhance the clinical application value and scientific connotation of this category of drugs.
3.Analysis on Characteristics and Prescriptions of Chinese Patent Medicines for Functional Diarrhea on Market
Shuangfei DENG ; Siyu LI ; Changyue SONG ; Caiyu LIU ; Daiyue DING ; Xiaohui SU ; Xiaoqin LUO ; Haiyu ZHAO ; Xiangying KONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):261-268
ObjectiveThis study focused on the marketed Chinese patent medicines for the treatment of Functional Diarrhea (FDr) in China and their prescription characteristics, in order to provide support for the clinical application and research and development of anti-FDr Chinese patent medicines. MethodsCollect the information of Chinese patent medicines that have been marketed to treat FDr, use Microsoft Excel 2021 software to conduct preliminary data collation and statistical analysis, and use the ancient and modern medical record cloud platform (V2.3.9) to analyze the standardized Chinese patent medicine prescriptions from the aspects of drug nature and taste, medication characteristics and prescription rules. Results147 kinds of FDr Chinese patent medicines were included in this study. There are a total of 40 varieties of FDr Chinese patent medicines suitable for children; The distribution of dosage forms is mainly pills, tablets, and capsules. 110 prescriptions were screened, among which the proportion of Chinese patent medicines for the treatment of spleen deficiency syndrome was the highest; The top three drug use frequency were licorice, Atractylodes macrocephala, and Poria cocos; The medicinal properties are mainly warm and flat, and the medicinal taste is mostly pungent, sweet and bitter, and most of them belong to the two meridians of the spleen and stomach; The association rules analysis obtains 20 strong association pairing sets; Three drug combinations were obtained by cluster analysis. ConclusionFDr Chinese patent medicine shows unique value in clinical application, especially in the field of children. However, there are still problems such as strong professionalism in the indication expression of drug instructions, limited coverage of the medical insurance catalog, and lack of high-level evidence-based medicine and pharmacoeconomic evidence. To this end, in the future, efforts should be made to build a multi-level evidence-based evidence system, improve medication compliance, and deepen research on syndrome-based medication laws, so as to enhance the clinical application value and scientific connotation of FDr Chinese patent medicines.
4.Characteristics and Prescription Analysis of Marketed Chinese Patent Medicines for Rheumatoid Arthritis
Siyu LI ; Shuangfei DENG ; Daiyue DING ; Changyue SONG ; Xiaohui SU ; Xiangying KONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):269-276
ObjectiveTo study the marketed products and prescription characteristics of Chinese patent medicines for rheumatoid arthritis (RA) in China, thus providing support for clinical application and innovative research and development of Chinese patent medicines for RA. MethodsInformation on marketed Chinese patent medicines for RA treatment was collected. Preliminary data organization and statistical analysis were performed in Microsoft Excel 2021. Subsequently, the standardized prescriptions were analyzed via the Ancient and Modern Medical Case Cloud Platform (V2.3.9) across dimensions including medicinal properties, flavors, channel tropisms, usage characteristics, and formulation patterns. ResultsThis study ultimately included 311 marketed Chinese patent medicines for RA in China. Their initial market launch dates were mostly concentrated from the 1990s to the early 21st century. The National Basic Medical Insurance, Work-Related Injury Insurance, and Maternity Insurance Drug Directory included 89 Chinese patent medicines for RA. The primary dosage forms were tablets, capsules, medicated wines, and pills. After screening, 237 prescriptions were obtained, and the research on their origins was lagging. Among them, the Chinese patent medicines for treating wind-cold-dampness obstruction syndrome accounted for the highest proportion. The top three most frequently used medicinals were Angelicae Sinensis Radix, Notopterygii Rhizoma et Radix, and Saposhnikoviae Radix. Medicinal properties were primarily warm and plain, and flavors were mostly pungent, sweet, and bitter. The medicinals predominantly exhibited the liver and spleen channel tropism. Association rule analysis revealed that the herb pairs with the highest confidence were Chuanxiong-Angelicae Sinensis Radix and Myrrha-Olibanum. Cluster analysis yielded three medicinal combinations. ConclusionAlthough Chinese patent medicines for RA have application advantages, issues such as narrow syndrome coverage and insufficient innovation in dosage forms exist. Future development should focus on constructing an evidence-based system, strengthening the textual research on prescription origins and the exploration of classical famous formulas, and promoting dosage form innovation and precise medication to enhance their clinical value.
5.Value of VI-RADS scoring combined with tumor quantitative MRI parameters in assessing muscle invasion of bladder cancer
Haili LIU ; Yijian CHEN ; Yuanhao MA ; Jian ZHAO ; Huiping GUO ; Xiaohui DING ; Guijuan ZHAI ; Fei YAN ; Wei XU ; Tianran LI ; Haiyi WANG
Chinese Journal of Radiology 2025;59(5):558-564
Objective:To explore the value of the vesical imaging-reporting and data system (VI-RADS) score based on multiparametric MRI (mpMRI) combined with quantitative tumor MRI parameters in assessing the muscle invasion of bladder cancer.Methods:The study was a case-control study. The data of 87 bladder cancer patients confirmed by pathology who underwent mpMRI of the bladder were retrospectively collected from the First Medical Center of Chinese PLA General Hospital between January 2019 and April 2023 The pathological findings were used as the gold standard to categorize them into the muscle invasive bladder cancer (MIBC) group (29 cases) and non-muscle invasive bladder cancer (NMIBC) group (58 cases). Quantitative parameters were measured based on preoperative mpMRI images, including the length of tumor bladder wall contact, the perpendicular distance between the bladder tumor and the tangent of the bladder wall, the maximal diameter of the bladder tumor, and the volume of the bladder tumor. Bladder cancer was classified according to the VI-RADS scoring criteria. The Mann-Whitney U test was used for intergroup comparisons. Multivariate logistic regression analysis was performed to obtain the independent risk factors related to muscle invasion of bladder cancer and to establish the model. The receiver operating characteristic curves were analyzed for MRI quantitative parameters and logistic regression models, and area under the curve (AUC) comparisons were performed using the DeLong test. Results:The differences in tumor bladder wall contact length, perpendicular distance from the tumor to the tangent line of the bladder wall, maximum diameter, bladder tumor volume, and the VI-RADS scores were statistically significant between the MIBC group and the NMIBC group ( P<0.05). Multifactorial logistic regression analysis showed that tumor bladder wall contact length ( OR=21.07, 95% CI 3.56-124.89, P=0.001) and VI-RADS score ( OR=11.90, 95% CI 3.53-40.12, P<0.001) were the independent risk factors for evaluating the muscle invasion of bladder cancer. The difference between the VI-RADS score and the tumor bladder wall contact length for assessing muscular infiltration of bladder cancer had AUCs of 0.802 (95% CI 0.704-0.899) and 0.759 (95% CI 0.652-0.865). The combined model of VI-RADS score combined with tumor bladder wall contact length had an AUC of 0.891 (95% CI 0.812-0.970), which was higher than the diagnostic efficacy of applying tumor bladder wall contact length or VI-RADS score alone ( Z=3.05, 2.37, P=0.002, 0.018). Conclusion:Tumor contact length with the bladder wall is an independent risk factor for assessing muscle invasion of bladder cancer and the combination of VI-RADS score may enhances diagnostic accuracy.
6.Biparametric MRI-based peritumoral radiomics for preoperative prediction of extracapsular extension in prostate cancer
Honghao XU ; Qicong DU ; Yuanhao MA ; Xueyi NING ; Baichuan LIU ; Xu BAI ; Di CHEN ; Yun ZHANG ; Zhe DONG ; Chuang JIA ; Xiaojing ZHANG ; Xiaohui DING ; Baojun WANG ; Aitao GUO ; Jian XUE ; Xuetao MU ; Huiyi YE ; Haiyi WANG
Chinese Journal of Radiology 2025;59(9):1055-1062
Objective:To investigate the value of biparametric-MRI (bpMRI) based peritumoral radiomics for preoperative prediction of extraprostatic extension (EPE) in prostate cancer (PCa).Methods:In this cross-sectional study, consecutive bpMRI of patients undergoing prostatectomy for PCa were retrospectively collected from the First Medical Center (center 1) and the Third Medical Center (center 2) of Chinese PLA General Hospital. A total of 274 patients were finally enrolled. Patients at center 1 from January 2020 to December 2022 were randomly divided into a training set (149 cases) and an internal validation set (63 cases) by stratified random sampling. Patients at center 2 from January 2023 to March 2024 were assigned to the external test set (62 cases). Patients were categorized into EPE-positive group and EPE-negative group according to pathological assessment postoperatively. In the training set, there were 49 cases in EPE-positive group and 100 cases in EPE-negative group. In the internal validation set, there were 26 cases in EPE-positive group and 37 cases in EPE-negative group. In the external test set, there were 22 cases in EPE-positive group and 40 cases in EPE-negative group. Axial T 2WI and apparent diffusion coefficient (ADC) images were manually annotated to obtain index lesion regions of interest (ROIs), with the peritumoral ROIs subsequently delineated by semi-automatic segmentation technique. Radiomics features were extracted from intra-tumoral, peri-tumoral, and intra-tumoral plus peri-tumoral ROIs. The training set data was employed to select and optimize features to build the radiomics models. The logistic regression analysis was used to develop radiomics, clinical, and integrated models. The predictive performance was assessed by the area under the receiver operating characteristic curve (AUC) in the external test set, and compared by the DeLong test. The sensitivity and specificity were compared by the exact McNemar test. Results:In the external test set, the peri-tumoral radiomics model based on bpMRI showed the highest performance in evaluating EPE, with an AUC of 0.739 (95% CI 0.611-0.842), which was identified as the optimal radiomics model. EPE grade ( OR=6.151, 95% CI 3.371-11.226, P<0.001) was incorporated into the clinical model, with an AUC of 0.780 (95% CI 0.657-0.875) in the external test set. The integrated model had an AUC of 0.817 (95% CI 0.698-0.904) in the external test set. There was no statistically significant difference in comparisons of AUCs among the three models (all P>0.05). The sensitivity of the integrated model (68.2%) showed no significant difference from those of the clinical model and the optimal radiomics model (77.3% and 86.4%, respectively; P=0.500 and P=0.289). However, the specificity of the integrated model (85.0%) was significantly higher than those of the clinical model (67.5%, P=0.016) and the optimal radiomics model (50.0%, P<0.001). Conclusion:A bpMRI-based peritumoral radiomics integrating clinical model demonstrates high performance for preoperative prediction of EPE in PCa.
7.Prevalence of metabolic syndrome and its influencing factors among male workers in an aluminum factory in Shanxi Province
Mujia LI ; Yulu XIN ; Yang LU ; Xiaohui DING ; Linping WANG ; Xiaoting LU ; Jing SONG
Journal of Environmental and Occupational Medicine 2025;42(11):1358-1363
Background Some studies have suggested that exposure to multiple metals is closely linked to the development of metabolic syndrome (MS) in the populations, but the effect of aluminum exposure on MS remains unclear. Objective To analyze the prevalence and influencing factors of MS among employees with aluminum exposure in Shanxi Province. Methods Cluster sampling was employed to survey male frontline workers in an aluminum factory in Shanxi Province. Data on general demographic information, lifestyle, occupational history, medical history, and family history of chronic diseases were collected through questionnaires. The concentration of fasting blood glucose was determined using the glucose oxidase technique, and blood lipid levels were determined using the peroxidase method. Serum aluminum levels were detected using inductively coupled plasma-mass spectrometry (ICP-MS), and blood biochemical indicators were measured using the peroxidase method. Based on the China's 2020 diagnostic criteria for MS, the participants were and divided into an MS group anda non-MS group. Variables with statistical significance in univariate analysis were included to construct a logistic regression model. Results A cohort of 312 workers participated in this research, with 84 individuals diagnosed with MS, yielding a prevalence rate of 26.92%. The logistic regression model revealed that body mass index (BMI)≥24.0 kg·m−2 (OR=1.967, 95%CI: 1.057, 3.659), alcohol consumption (OR=1.883, 95%CI: 1.063, 3.336), experiencing major life event (OR=3.886, 95%CI: 1.509, 10.008), family history of hypertension (OR=2.112, 95%CI: 1.162, 3.837), serum aluminum concentration (OR=1.024, 95%CI: 1.012, 1.035), alanine aminotransferase (ALT) level (OR=1.032, 95%CI: 1.011, 1.054), and white blood cell (WBC) count (OR=1.210, 95%CI: 1.001, 1.465) were significant influencing factors for MS. Conclusion BMI≥24.0 kg·m−2, alcohol consumption, experiencing major life event, family history of hypertension, elevated serum aluminum concentration, increased ALT level, and elevated WBC count are risk factors for MS among occupationally aluminum-exposed workers.
8.Expression of β-arrestin1 in oral squamous cell carcinoma and its effect on cell proliferation,migration and invasion
Xiaohui HAO ; Min CHEN ; Nan WU ; Yunshan DING ; Lifan ZHU ; Haitao DAI
Journal of Army Medical University 2025;47(14):1632-1641
Objective To investigate the effect of β-arrestin1(ARRB1)on cell proliferation,migration and invasion in oral squamous cell carcinoma(OSCC).Methods Based on The Cancer Genome Atlas(TCGA)database,the expression profiles of ARRB1 in OSCC were analyzed,and then Gene Set Enrichment Analysis(GSEA)was used to suggest the possible signaling pathways involved,and to explore its potential impact on the prognosis of OSCC patients.Immuinohistochemistry(IHC)was performed to detect the expression of ARRB1 in OSCC tumor tissues and adjacent tissues,and the correlation between ARRB1 expression and clinicopathological features was statistically analyzed.The expression profiles of ARRB1 in SCC-15,CAL-27 and HOK cell lines were verified by qPCR and Western blotting.The ARRB1 overexpression plasmid model was constructed,and its effects on the proliferation,migration and invasion of OSCC cells were analyzed by clone formation,EdU,scratch and Transwell assays.Results TCGA showed that the expression level of ARRB1 was significantly lower in head and neck squamous cell carcinoma(HNSC)and OSCC tissues than the corresponding normal tissues(P<0.01).The expression of ARRB1 in OSCC tissues was correlated with tumor differentiation,lymph node metastasis and TNM stage(P<0.05).The OSCC patients with high expression of ARRB1 had a lower survival rate than those with low expression(P<0.01),which was consistent with the results of bioinformatics analysis.The expression level of ARRB1 in SCC-15 and CAL-27 cells was lower than that of HOK cells(P<0.01),and its overexpression significantly inhibited cell proliferation(P<0.05),migration(P<0.01)and invasion(P<0.01).Conclusion ARRB1 is lowly expressed in OSCC,its overexpression inhibits the proliferation,migration and invasion of OSCC cells,and it is related to prognosis improvement.
9.Value of high-frequency ultrasound in the diagnosis of carpal tunnel syndrome in patients with acromegaly
Tianyu ZHAO ; Yifei YU ; Xueqi LI ; Xiaohui QIAO ; Yiming LI ; Hong DING
Chinese Journal of Ultrasonography 2025;34(5):403-409
Objective:To observe the high-frequency ultrasound characteristics of the median nerve(MN)in patients with acromegaly,and to investigate the clinical value of multiparameter quantitative ultrasound for noninvasive assessment of carpal tunnel syndrome(CTS)in acromegalic patients.Methods:A total of 132 acromegalic patients due to pituitary growth hormone tumors in Huashan Hospital during July 2023 to September 2024 including initial patients and postoperative revisions were prospectivly collected. The patients were divided into no neurological symptoms group( n=51)and clinical CTS group( n=81)based on the Boston Carpal Tunnel Questionnaire. All patients underwent bilateral MN ultrasonography,the ultrasound parameters included the cross-sectional area(CSA)of MN at the entrance of carpal tunnel,the maximum CSA of MN in carpal tunnel,the maximum and minimum thickness of MN in carpal tunnel,CSA of MN at forearm 1/3,soft tissue thickness at the wrist,CSA of MN at elbow transverse stripe,blood flow signals within the MN at the carpal tunnel,ratio of the CSA(CSA of MN at the entrance of carpal tunnel/ CSA of MN at forearm 1/3),ratio of thickness(maximum / minimum thickness of MN in carpal tunnel). Differences in general information,clinical indicators and ultrasound parameters were analyzed between the two groups. The diagnostic model was established with ultrasound parameters and clinical indicators using univariate and multivariate logistic analyses in a training cohort of 106 patients,to predict CTS within acromegaly. And ROC curve was used to evaluate the efficacy of the model in a test cohort of 26 patients with neurophysiological examination data. Results:Patients in clinical CTS group were older,with longer disease duration,higher levels of growth hormone 25-hydroxyvitamin D 3 and insulin-like growth factor-1 and were more likely to have impaired glucose tolerance relative to the no neurologic symptoms group(all P < 0.05). Comparison between the two groups revealed significant differences in all ultrasound parameters:the CSA at the entrance of the MN carpal tunnel,the 1/3 of the forearm and the elbow were larger than the no neurological symptoms group(all P < 0.001),and the MN thickness ratio was greater observably in the clinical CTS group( P < 0.001). Greater thickness of the soft tissue at wrist and more blood flow signals in MN in carpal tunnel were revealed in clinical CTS group patients( P < 0.001).Combining the results of multifactorial logistic analysis,the multiparametric ultrasound combined with clinical index diagnosing model based on the predicted disease duration,CSA of MN at the entrance of carpal tunnel,MN thickness ratio and soft tissue thickness at the carpal tunnel was established to diagnose CTS combined with acromegaly. The ROC curve was plotted in the test cohort and the area under the curve for this model was 0.894. Conclusions:High-frequency ultrasound is sensitive to observe MN changes in acromegalic patients and the combination of multiparametric ultrasound and clinical index is useful for the non-invasive diagnosis of acromegalic patients with CTS.
10.SMARCB1-deficient renal medullary carcinoma without sickle cell trait: clinicopathological and molecular characteristics
Huizhi ZHANG ; Jun HOU ; Xiaoqun YANG ; Qiuyuan XIA ; Suying WANG ; Yifen ZHANG ; Hong CHEN ; Xiaohui DING ; Heli WANG ; Ming ZHAO
Chinese Journal of Pathology 2025;54(8):838-844
Objective:To investigate the clinicopathological features including immunophenotype, molecular characteristics, differential diagnosis and prognosis of SMARCB1-deficient renal medullary carcinoma (RMC) without sickle cell trait.Methods:The clinicopathological data of 12 cases of SMARCB1-deficient RMC without sickle cell trait were collected from 7 domestic institutions during the period of 2015 to 2024. Their clinical characteristics, morphological features and immunohistochemical properties were observed and analyzed. High-throughput DNA-targeted next-generation sequencing was performed, and follow-up data were gathered along with relevant literature review.Results:Among the 12 patients, 5 were female and 7 were male. The patients age ranged from 27 to 84 years with a median age of 58.5 (46.0, 71.0) years. None of them had sickle cell disease or other hemoglobinopathies. Eight cases occurred in the left kidney and 4 cases were located in the right kidney. The average maximum diameter of the tumor was 6.1 (4.0,7.5) cm, with a range of 2.0 to 14.9 cm (the median maximum diameter 5.5 cm). Histologically, the tumors showed poorly differentiated adenocarcinoma, arranged in solid and tubular patterns. Papillary structure was noted in 5 cases, cribriform structure in 3 cases, rhabdoid differentiation in 3 cases, and sarcomatoid differentiation in 2 cases. Inflammatory desmoplastic stromal reaction was observed in 8 cases, among which stromal myxoid degeneration was seen in 6 cases. Tumor necrosis was apparent in 6 cases. The tumor cells had abundant eosinophilic or clear cytoplasm and prominent nucleoli. The nuclear grading was grade 3 or 4 according to the International Society of Urological Pathology (ISUP). Immunohistochemical staining showed that the tumor cells of all 12 cases expressed PAX8 and loss of SMARCB1/INI1 protein expression, and 5 of 10 cases expressed OCT3/4. Seven samples had valid archived paraffin tissues for high-throughput DNA-targeted next-generation sequencing. The results showed that all 7 cases had pathogenic mutations in the SMARCB1 gene. The mutation sites included exon5 c.595A>T (p.K199*), exon2 c.200_207del (p.S67*), exon2 p.G69VfsTer16, exon7 c.986G>T (p.S329I), exon7 c.886A>T (p.K296*), exon6 c.635T>A (p.L212*), exon5 c.577del (p.M193Wfs16), and exon6 c.784del (p.V262Sfs5). Follow-up data were obtained for 6 of 12 patients. Among them, 1 patient had lung and bone metastases, 1 patient had liver and bone metastases and 1 patient had multiple bone metastases at the time of diagnosis; 1 patient had bone metastases 5 months after surgery. One patient died of postoperative complications 10 days after surgery, 4 patients died of tumors (the survival time ranged from 4 to 8 months), and 1 patient had no recurrence or metastasis during the 8-month follow-up after surgery.Conclusions:SMARCB1-deficient RMC without sickle cell trait is a highly aggressive and poorly differentiated renal cell carcinoma. It has similar histomorphology, immunophenotype, molecular characteristics and prognosis to RMC, which further supports that it is a sporadic subtype of RMC related to sickle cell trait.

Result Analysis
Print
Save
E-mail