1.Factors affecting and identification of key environmental determinants of the Oncomelania hupensis snail density in the Yangtze River Delta based on machine learning models
Yinlong LI ; Qin LI ; Suying GUO ; Shizhen LI ; Lijuan ZHANG ; Chunli CAO ; Jing XU
Chinese Journal of Schistosomiasis Control 2026;38(1):14-19
Objective To identify factors affecting and key environmental factors of the Oncomelania hupensis snail density in the Yangtze River Delta region using machine learning methods. Methods Administrative village-level O. hupensis snail survey data in the Yangtze River Delta (including Shanghai Municipality, Jiangsu Province, Zhejiang Province and Anhui Province) from 2011 to 2021 were retrieved from the Information Management System for Parasitic Disease Control of Chinese Center for Disease Control and Prevention. Environmental factor data were captured from the Google Earth Engine platform, including elevation, slope, terrain, normalized difference vegetation index (NDVI), vegetation type, soil type, total petroleum hydrocarbon (TPH), ammonium nitrogen, inorganic nitrogen, dissolved oxygen, pH of water, chemical oxygen demand (COD) and inorganic phosphorus, and climatic factor data in the study region were retrieved from the Copernicus Climate Data Store, including annual precipitation, aridity index and annual mean temperature (AMT). O. hupensis snail survey data in the Yangtze River Delta region from 2011 to 2021 were randomly divided into a training set (70%) and a test set (30%), and five machine learning models were selected for machine learning model construction and comparative analysis of the O. hupensis snail density using the software R 4.3.0, including random forest (RF), eXtreme gradient boosting (XGBoost), support vector machine (SVM), gradient boosting machine (GBM) and neural network (NN). The XGBoost model was employed to construct a predictive model for the O. hupensis snail density, and the impact of each environmental factor on O. hupensis snail distribution was quantified. The SHapley Additive exPlanations (SHAPs) values were calculated to estimate the average contribution of each variable to the model prediction, and the core environmental factors affecting the O. hupensis snail population density were screened. Results Among the five machine learning models, the XGBoost model exhibited the optimal comprehensive performance, with the coefficient of determination (R2) of 0.855, mean squared error (MSE) of 0.188, root mean squared error (RMSE) of 0.434 and mean absolute error (MAE) of 0.155, respectively. Analysis of factors affecting the O. hupensis snail density with the XGBoost model showed that among the 16 environmental factors, the top four high-impact factors ranked by SHAPs values included annual precipitation, elevation, aridity index and NDVI, with cumulative SHAPs contributions of 75%, which was higher than that of other environmental factors. If NDVI was higher than 0.6, the O. hupensis snail density increased with NDVI and peaked if NDVI was 0.8 (1.60 snails/0.1 m2). The O. hupensis snail density increased with elevation if the elevation ranged from 14 to 40 m, and slowly rose if the annual precipitation ranged from 900 to 1 300 mm, and then increased rapidly to the peak (1.52 snails/0.1 m2) if the annual precipitation ranged from 1 300 to 1 500 mm. In addition, the O. hupensis snail density increased rapidly to the maximum (1.60 snails/0.1 m2) if the aridity index ranged from 0.8 to 1.1, and decreased gradually if the aridity index exceeded 1.1. Conclusions The XGBoost model shows excellent performance in prediction of the O. hupensis snail density and identification of key environmental factors in the Yangtze River Delta region. Annual precipitation, elevation, aridity index and NDVI are key environmental factors affecting the distribution and density of O. hupensis snails in the Yangtze River Delta region.
2.Innovation and Practice in the Construction of "Three-in-one" Talent Training Systems for Laboratory Animal Professionals in Medical Colleges
Xiuran WANG ; Hao LI ; Zhengtao CHEN ; Yang YU ; Suying ZHANG ; Ru TAO ; Kezhou WANG
Laboratory Animal and Comparative Medicine 2026;46(3):446-455
Laboratory animal science is an emerging interdisciplinary field supporting life science and medical research, and a key component of talent cultivation and technological innovation in medical colleges. Currently, this field faces challenges such as a significant imbalance between talent supply and demand and a weak systematic training system. To respond to national strategies and societal needs, Shandong First Medical University established the School of Laboratory Animal through industry-education integration during the 14th Five-Year Plan period. The school is based on The Medical Laboratory Technology major, cultivates application-oriented, interdisciplinary professionals in laboratory animal science, and has constructed a three-in-one training system integrating "course learning–scientific research–industry practice". Specific measures for talent cultivation include: optimizing the general education, professional courses, and intensive practical modules in the talent training program, and establishing the "Yellow River Class" integrating industry and education; implementing an undergraduate mentor system, and conducting scientific research training based on The Model Animal Research and Development Engineering Laboratory; collaborating with bases across the entire industrial chain of laboratory animal production, research, application, and quality control, appointing industry mentors, and strengthening practical teaching. Practice has shown that this system has been remarkably effective: a total of 320 undergraduate students have been enrolled since 2020; the employment rate of undergraduate graduates for two consecutive cohorts has reached 100%, and the postgraduate enrollment rate has exceeded 50%; undergraduate students have won numerous national and provincial awards in academic competitions, and have obtained multiple patents and published papers. In the future, the school will further integrate the advantages of medicine, agriculture, and science, optimize the depth and breadth of courses, strengthen the construction of faculty and teaching materials, and improve the undergraduate-master's integrated training mechanism. This article can provide a reference for the training of professionals in laboratory animal science and related biomedical fields in medical colleges.
3.Progress of schistosomiasis control in the People’s Republic of China in 2025
Junyi HE ; Lijuan ZHANG ; Suying GUO ; Shizhen LI ; Yinlong LI ; Fan YANG ; Chunli CAO ; Jing XU ; Shizhu LI
Chinese Journal of Schistosomiasis Control 2026;38(3):223-231
To understand the progress of, summarize experiences from, and analyze problems in the national schistosomiasis elimination programme, this article presented the national schistosomiasis epidemiology and surveillance in the People’s Republic of China in 2025. By the end of 2025, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region maintained the achievement of schistosomiasis elimination, and 7 provinces of Jiangsu, Sichuan, Yunnan, Hubei, Hunan, Anhui and Jiangxi remained at the criteria of schistosomiasis transmission interruption. In 2025, there were 450 counties (cities, districts), 3 203 townships and 26 029 villages endemic for schistosomiasis in China, with a total population of 73.598 million in endemic villages. Among the 450 endemic counties (cities, districts), 421 (93.56%) achieved the criteria of schistosomiasis elimination and 29 (6.44%) reached the criteria of transmission interruption. In 2025, a total of 3 630 874 residents received immunological tests for schistosomiasis across endemic areas in China, with 31 588 seropositives identified (seroprevalence, 0.87%), and a total of 154 293 individuals received parasitological examinations, with 5 egg-positives detected. A total of 26 688 advanced schistosomiasis cases were recorded in China by the end of 2025. Of 529 683 bovines raised in schistosomiasis-endemic villages in China in 2025, 101 637 bovines received immunological tests for schistosomiasis, with 183 seropositives detected (seroprevalence, 0.18%), and 165 654 bovines received parasitological examinations, with no egg-positives identified. In 2025, Oncomelania hupensis snail survey was performed covering an area of 667 524.82 hm2 in China, and 176 378.64 hm2 O. hupensis snail habitats were identified, including 123.77 hm2 emerging O. hupensis snail habitats and 953.71 hm2 re-emerging O. hupensis snail habitats. A total of 19 283 schistosomiasis cases received chemotherapy with praziquantel in China in 2025, and 477 450 person-times and 304 279 herd-times received expanded chemotherapy, respectively. In addition, O. hupensis snail control with chemical treatment covered 116 475.10 hm2 snail habitats across China in 2025, with an actual area with chemical control covering 68 510.93 hm2 and an area with environmental improvements covering 1 101.84 hm2. The national schistosomiasis surveillance results indicated that the mean prevalence of Schistosoma japonicum infections was both 0 among humans and bovines in 2025, and no S. japonicum infection was detected in O. hupensis snails. These data showed that the prevalence of schistosomiasis remained low in China in 2025; however, the area of O. hupensis snail habitats stayed high, with an increase in emerging and reemerging O. hupensis snail habitats. It is recommended to improve the surveillance and forecast mechanism for schistosomiasis and precisely implement the O. hupensis snail control programme in high-risk areas.
4.Integrated effects of climate, land use, and their interactive driving mechanisms on the spatiotemporal dynamics of Oncomelania hupensis density: a case study of Yunnan Province
Jiangling XIANG ; Suying GUO ; Qiang WANG ; Lijuan ZHANG ; Jiayu SUN ; Yi DONG ; Jing XU
Chinese Journal of Schistosomiasis Control 2026;38(3):260-267
Objective To examine the impact of climate, land use and their interaction effect on the population density of Oncomelania hupensis. Methods O. hupensis snail surveillance data in Yunnan Province from 2013 to 2022 were obtained from the National Information System for Parasitic Diseases Prevention and Control of Chinese Information System for Disease Control and Prevention, and the density of living snails was calculated in each county-level administrative district. Climate data were obtained from the China Meteorological Forcing Dataset version 2.0, and land use data were captured from the China Land Cover Dataset. The raster climate data and land use data were clipped to the administrative border of Yunnan Province in the R package version 4.5, and the climate data were resampled to a spatial resolution of 30 m × 30 m consistent with the land use data using bilinear interpolation. Annual meteorological indicators were extracted from each county-level schistosomiasis surveillance administrative area in Yunnan Province from 2013 to 2022, including average temperature, maximum temperature, minimum temperature, temperature difference, average precipitation rate, maximum precipitation rate, minimum precipitation rate, downward shortwave radiation flux, downward longwave radiation flux, air pressure, wind speed, specific humidity and relative humidity. Annual land use structure and landscape pattern index in each county-level schistosomiasis surveillance administrative area in Yunnan Province from 2013 to 2022 were extracted and calculated, including the proportion of areas occupied by each type of land use, patch density, largest patch index, landscape separation index, landscape fragmentation index, landscape segmentation index, contagion index, patch cohesion index, edge density, and shape index. Land use entropy index was introduced to represent the degree of habitat fragmentation and ecological niche breadth. The density of living snails and environmental factors were subjected to rank correlation analysis, and variables with no statistically significant correlation (P>0.1) were excluded. Then, a correlation coefficient matrix was constructed, and |rs| of 0.85 and greater was defined as the threshold of high collinearity. For highly correlated variables in each group, indicators with a more biological explanatory power or a better statistical efficiency were retained. A generalized additive model (GAM) was constructed with O. hupensis snail density as a response variable and screened environmental variables as independent variables, and the model performance was evaluated using the variance explained. Results The area occupied by O. hupensis snail habitats was 1 056 to 1 680 hm2 in Yunnan Province from 2013 to 2022, appearing an overall tendency towards a decline; however, the density of living snails appeared a tendency towards a slight rise. Based on the correlation coefficient matrix, 14 core explanatory variables were retained, including farmland, water bodies, bare land, impervious surface, landscape separation index, landscape fragmentation index, edge density, shape index, land use entropy index, downward longwave radiation flux, downward shortwave radiation flux, maximum temperature, minimum precipitation rate and specific humidity. Two types of GAM were constructed, including the main-effects model without interaction terms and the interaction model with interaction terms. The corrected Akaike information criterion (AICc) of the optimal main-effects model was −285.223, and the core variables included bare land, impervious surface, landscape separation index, edge density, shape index, land use entropy index and downward shortwave radiation flux. Following introduction of second-order interaction terms, the AICc value of the optimal interaction model was −345.526, and the significant interaction combinations included: farmland × impervious surface, farmland × landscape separation index, farmland × shape index, farmland × land use entropy index, impervious surface × landscape separation index, impervious surface × edge density, and shape index × downward shortwave radiation flux. The proportion of the main-effects model explaining the variation of O. hupensis snail density was 39.8%, and the explanatory power of GAM increased to 79.0% following introduction of interaction terms. Conclusion Landscape separation index, edge density, shape index and other landscape pattern indicators pose significant impacts on the intensity and direction of changes in O. hupensis snail density in Yunnan Province.
5.Mechanism of Traditional Chinese Medicine in Treatment of Metabolic Dysfunction-associated Fatty Liver Disease: A Review
Shuangmei ZHAO ; Hong WANG ; Suying WANG ; Jiale MA ; Long PENG ; Hengyu ZHANG ; Dewen LIANG ; Wang GAO ; Huizhen LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(18):282-291
Metabolic dysfunction-associated fatty liver disease (MAFLD) is a chronic liver disease closely related to metabolic dysfunction. Its global prevalence is increasing year by year and shows a trend toward younger onset. It is closely associated with cardiovascular and cerebrovascular diseases, chronic kidney disease, and extrahepatic malignant tumors, and has become a major public health problem affecting the health of the Chinese population. At present, the treatment of MAFLD mainly focuses on lifestyle intervention. When metabolic cardiovascular risk factors and liver injury are present, pharmacological intervention is required. However, there is still no specific drug therapy for MAFLD. In recent years, many studies have found that the pathogenesis of MAFLD involves interactions among multiple factors, including insulin resistance, oxidative stress, endoplasmic reticulum stress, programmed cell death, immune dysregulation, inflammasomes, gut microbiota imbalance, and bile acid metabolism. Traditional Chinese medicine (TCM) has advantages in integrated regulation with multiple components and multiple targets, and shows significant efficacy in the treatment of MAFLD. Active components of Chinese medicinal herbs and Chinese medicine compound formulas exert definite therapeutic effects by regulating multiple signaling pathways to improve lipid metabolism disorders, inhibit inflammatory responses, and regulate the gut microbiota, thereby effectively improving clinical symptoms and delaying the occurrence and development of MAFLD. Therefore, strengthening research on the mechanisms of action of TCM in MAFLD is of crucial importance and significance for its treatment. This article summarizes the mechanisms by which Chinese medicine monomers and compound formulas intervene in MAFLD through the regulation of related signaling pathways, based on the retrieval and analysis of relevant literature from multiple databases, with the aim of providing theoretical support and a reference basis for the clinical application of TCM in the treatment of MAFLD.
6.Progress of schistosomiasis control in the People’s Republic of China in 2024
Junyi HE ; Lijuan ZHANG ; Fan YANG ; Hui DANG ; Yinlong LI ; Suying GUO ; Shizhen LI ; Chunli CAO ; Jing XU ; Shizhu LI
Chinese Journal of Schistosomiasis Control 2025;37(3):223-231
To understand the progress of, summarize the lessons learned from and analyze the challenges in the national schistosomiasis elimination program of China in 2024, this article presented the endemic situation of schistosomiasis and national schistosomiasis surveillance results in the People’s Republic of China in 2024. By the end of 2024, Shanghai Municipality, Zhejiang Province, Fujian Province, Guangdong Province and Guangxi Zhuang Autonomous Region continued to consolidate schistosomiasis elimination achievements, and 7 provinces of Jiangsu, Sichuan, Yunnan, Hubei, Hunan, Anhui and Jiangxi maintained the criteria of schistosomiasis transmission interruption. A total of 450 counties (cites, districts) were found to be endemic for schistosomiasis in China in 2024, including 26 061 endemic villages covering 73 630 500 residents at risk of infections. Among the 450 counties (cities, districts) endemic for schistosomiasis, 388 (86.22%) achieved the criteria of schistosomiasis elimination and 62 (13.78%) achieved the criteria of transmission interruption. In 2024, a total of 4 102 624 individuals received immunological tests for schistosomiasis in China, with 44 823 sero-positives identified (1.09% seroprevalence), and a total of 169 722 individuals received parasitological examinations, with 1 egg-positives detected. A total of 27 321 cases with advanced schistosomiasis were documented in China by the end of 2024. In 2024, a total of 575 686 bovines were raised in schistosomiasis-endemic villages of China, and 113 842 bovines received immunological tests, with 235 sero-positives detected (0.21% seroprevalence), while no egg-positives were identified among the 167 475 bovines receiving parasitological examinations. In 2024, snail survey was performed covering an area of 680 498.27 hm2 in China, and 190 778.66 hm2 snail habitats were identified, including 59.09 hm2 emerging snail habitats and 704.23 hm2 reemerging snail habitats. In 2024, a total of 19 665 schistosomiasis patients receiving chemotherapy with praziquantel in China, and expanded chemotherapy was given to humans at 571 722 person-times and to bovines at 306 740 herd-times. In addition, snail control with chemical treatment covered 117 111.37 hm2 snail habitats across China in 2024, and the actual area of chemical treatment was 66 562.95 hm2, while environmental improvements were performed in snail habitats covering an area of 1 374.26 hm2. The national schistosomiasis surveillance results showed that the mean prevalence rates of Schistosoma japonicum infections were both 0 among humans and bovines in China in 2024, and no S. japonicum infection was detected in snails. These data demonstrated that the prevalence of schistosomiasis remained at a low level in China in 2024; however, the areas of snail habitats remained high and the number of fenced cattle showed a slight increase. To address these risks, it is imperative to maintain the integrated strategy with an emphasis on management of the source of S. japonicum infection and intensified snail control in high-risk areas, and to reinforce schistosomiasis surveillance and forecast and snail control in high-risk areas.
7.Clinical application of combined serological diagnostic methods in anti-BP180-type and anti-laminin 332-type mucous membrane pemphigoid
Yuan WANG ; Suo LI ; Zhiliang LI ; Ke JING ; Chao SUN ; Guirong LIANG ; Hanmei ZHANG ; Suying FENG
Chinese Journal of Dermatology 2025;58(5):446-452
Objective:To apply combined serological diagnostic methods for anti-BP180-type and anti-laminin 332 (Ln332) -type mucous membrane pemphigoid (MMP), and to summarize their clinical and immunoserological characteristics.Methods:A retrospective analysis was conducted on the data from 52 patients clinically suspected of having MMP at the Hospital of Dermatology, Chinese Academy of Medical Sciences from January 2017 to February 2022. Serum samples were collected, and combined serological tests, including indirect immunofluorescence on salt-split skin, enzyme-linked immunosorbent assay, and immunoblotting, were performed to analyze the immunoserological and clinical characteristics of the patients. The Fisher′s exact test was used to compare the lesion occurrence rates between groups.Results:Among the 52 patients clinically suspected of MMP, 32 (61.5%) were diagnosed with anti-BP180-type MMP, 10 (19.2%) with anti-Ln332-type MMP, and 4 (7.7%) with anti-BP180- and anti-Ln332-type MMP due to the presence of both anti-BP180 and anti-Ln332 antibodies; 2 tested positive for IgG on the epidermal side of salt-split skin, but no target antigens were identified by serological tests, and they were diagnosed with MMP (subtype pending) ; 4 tested negative by immunoserological tests. Ocular involvement was observed in 6 out of 10 patients with anti-Ln332-type MMP, whereas only 6 out of 32 anti-BP180-type MMP patients (18.8%) had ocular symptoms, and there was a significant difference in the occurrence rate of ocular involvement between the two groups ( P = 0.02) ; the occurrence rates of nasal involvement and multi-mucosal involvement were significantly higher in the anti-Ln332-type MMP patients (50%[5/10], 90%[9/10], respectively) than in the anti-BP180-type MMP patients (0, 25%[8/32], respectively, both P < 0.001). Scar formation occurred in 6 out of 10 anti-Ln332-type MMP patients, but occurred in only 6 out of 32 anti-BP180-type patients (18.8%, P = 0.02) . Conclusion:The combination of indirect immunofluorescence on salt-split skin, enzyme-linked immunosorbent assay, and immunoblotting could effectively identify anti-BP180 and anti-Ln332 autoantibodies in MMP patients, with BP180 being the most common target antigen; compared with anti-BP180-type MMP, anti-Ln332-type MMP appeared to be more frequently involve the ocular and nasal mucosae, associated with the involvement of multiple mucosal sites, carrying a higher risk of scar formation.
8.Characteristics and prognosis of lymphoepithelioma-like carcinoma in children
Li YE ; Lu SUYING ; Zhen ZIJUN ; Zhu JIA ; Sun FEIFEI ; Wang JUAN ; Huang JUNTING ; Que YI ; Zhang YIZHUO
Chinese Journal of Clinical Oncology 2025;52(15):776-782
Objective:To explore the pathogenesis,clinical features,treatment strategies,and prognosis of pediatric lymphoepithelioma-like carcinoma(LELC).Methods:A retrospective analysis was conducted on the clinical data of patients with LELC aged<18 years,treated at Sun Yat-sen University Cancer Center from March 2008 to June 2023.Results:A total of 19 children and adolescents were included in the analys-is,comprising 10 males(52.6%)and 9 females(47.4%),with a median age of 12.9(4.3-17.0)years.Fourteen patients(73.7%)lived in Guangdong province,with the remainder scattered across other regions.Primary LELC sites were the mediastinum(11 cases,57.9%),parot-id glands(4 cases,21%),neck(1 case,5.3%),lungs(1 case,5.3%),salivary glands(1 case,5.3%),and submandibular glands(1 case,5.3%).Among these,15 patients(78.9%)had at least one distant metastasis at initial diagnosis,with common metastasis sites being cervical lymph nodes.Multivariate Cox regression analysis identified tumor volume≥801 cm3 as an independent adverse prognostic factor of poor overall survival(OS)(P<0.01).The 2-year OS and progression-free survival(PFS)rates were 84.2%and 57.9%,respectively.The 2-year OS for pa-tients who underwent surgery,chemotherapy,and radiotherapy was 100%,compared with 25%for those who received only partial treat-ment(P=0.007).The 2-year PFS rate was significantly higher in patients receiving first-line combination therapy with programmed death-1(PD-1)antibodies(100%)compared with those not treated with PD-1 antibodies(38.5%)(P=0.020).For patients with tumor volume≥801 cm3,the 2-year OS was 40.0%,whereas for those with a tumor volume<801 cm3,the 2-year OS was 100%(P<0.001).The 2-year OS for pa-tients who underwent radiotherapy was 100%,while it was 0 for those who did not receive radiotherapy(P<0.001).Conclusions:Pediatric LELC exhibits a relatively favorable prognosis with multidisciplinary treatment,including surgery,chemotherapy,and radiotherapy.The com-bined use of PD-1 antibodies at the time of initial diagnosis could offer potential benefits and warrants further exploration.
9.Formulation and Analysis of the Standard for Adverse Drug Reaction Management
Liwei JI ; Suying YAN ; Wei ZHANG ; Feng QIU ; Jin LU ; Jiancun ZHEN ; Ling TAN
Herald of Medicine 2025;44(3):396-399
To standardize the management of adverse drug reactions in medical institutions and ensure medicine safety,based on relevant national regulations,normative documents,international and domestic adverse drug reaction management guide-lines,and expert opinions,the Chinese Hospital Association Pharmaceutical Specialized Committee led the development of the ad-verse drug reaction management standard.This article elaborated on the formulation process of this standard and provides an in-depth analysis of its key contents.It aimed to offer guidance and reference for medical personnel,helping them to thoroughly under-stand and master the management requirements of adverse drug reactions,thereby enhancing the management level of adverse drug reactions and ensuring the safe use of medications for patients.
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