1.Effects of intravenous and intraperitoneal routes on Babesia microti infections and splenic immune cells in BALB/c mice
Hanyin YANG ; Yuchun CAI ; Shuning YAN ; Yi XIN ; Ziran MO ; Bin XU ; Bin ZHENG
Chinese Journal of Schistosomiasis Control 2025;37(1):61-68
Objective To investigate the changes in the prevalence of Babesia microti infections, spleen morphology and proportions of splenic immune cells in BALB/c mice following intravenous and intraperitoneal injections, so as to provide insights into unraveling the immune regulatory mechanisms of Babesia infections. Methods Laboratory - maintained B. microti strains were prepared into whole blood samples with 10% prevalence of B. microti infection. A total of 75 BALB/c mice were randomly divided into three groups, including the normal control group, intravenous injection group, and intraperitoneal injection group, of 25 mice in each group. Mice in the intravenous and intraperitoneal injection groups were administered 100 μL of whole blood samples with 10% prevalence of B. microti infection, with the day of injection recorded as d0, and animals in the normal control group were given no treatments. Blood was sampled from mice in each group via the tail tip on d7, d14, d21, d28 and d35, and prepared into thin-film blood smears, and B. microti infection was observed in red blood cells. Five mice were randomly sampled from each group and sacrificed on d7, d14, d21, d28 and d35, and spleen was collected for measurement of spleen size and weight. In addition, splenic cells were isolated, and the proportions of CD3e+ T cells, CD45R+ B cells, CD49b+ nature killer (NK) cells, and F4/80+ macrophages were detected in CD45+ lymphocytes using flow cytometry. Results The prevalence of B. microti infection in the intravenous (22.80%) and intraperitoneal injection groups (44.82%) peaked on d7 (χ2 = 8.141, P < 0.01) and then rapidly decreased, and no parasites were observed on d35. The longest mouse spleen length [(32.91 ± 2.20) mm] and width [(9.82 ± 0.43) mm], and the greatest weight [(0.78 ± 0.10) g] were found on d14 in the intravenous injection group, and the longest spleen length [(32.42 ± 3.21) mm] and width [(10.25 ± 0.73) mm], and the greatest weight [(0.73 ± 0.09) g] were seen in the intra-peritoneal injection group on d21, d7 and d14, respectively. There were significant differences among the intravenous injection group, intraperitoneal injection group and the normal control group in terms of spleen length (F = 10.310, P < 0.05), width (F = 9.824, P < 0.05), and weight (F = 10.672, P < 0.05) on d21, and the mouse spleen length, width and weight were all significantly greater in the intraperitoneal injection group than in the intravenous injection group (allP values < 0.05). The proportions of splenic CD3e+ T cells [(60.60 ± 6.20)% and (39.68 ± 7.62)%], CD45R+ B cells [(43.32 ± 2.08)% and (49.53 ± 4.90)%], CD49b+ NK cells [(6.88 ± 1.34)% and (7.71 ± 1.59)%], and F4/80+ macrophages [(2.21 ± 0.29)% and (3.80 ± 0.35)%] peaked on d14, d21, d21 and d14 in the intravenous and intraperitoneal injection groups, respectively. There were significant differences in the proportions of CD3e+ T cells (F = 16.730, P < 0.05) and F4/80+ macrophages (F = 15.941, P < 0.05) among the intravenous injection group, intraperitoneal injection group and normal control group on d14, and a higher proportion of CD3e+ T cells and a lower proportion of F4/80+ macrophages were detected in the intravenous injection group than in the intraperitoneal injection group (both P values < 0.01). There were significant differences among the intravenous injection group, intraperitoneal injection group and normal control group on d21 in terms of proportions of splenic CD3e+ T cells (F = 9.252, P < 0.05), CD45R+ B cells (F = 14.349, P < 0.05), CD49b+ NK cells (F = 13.436,P < 0.05), and F4/80+ macrophages (F = 8.180, P < 0.05), and a higher proportion of CD3e+ T cells and lower proportions of CD45R+ B cells and F4/80+ macrophages were detected in the intravenous injection group than in the intraperitoneal injection group (all P values < 0.01). In addition, there was a significant difference in the proportion of CD3e+ T cells among the intravenous injection group, intraperitoneal injection group and normal control group on d28 (F = 9.772,P < 0.05), and a lower proportion of CD3e+ T cells was found in the intravenous injection group than in the intraperitoneal injection group (P < 0.01). Conclusions Both intraperitoneal and intravenous routes are effective to induce B. microti infections in BALB/c mice, and the prevalence of B. microti infections is higher in BALB/c mice through the intraperitoneal route than through the intravenous route. Intraperitoneal and intravenous injections with B. microti cause diverse spleen morphologies and proportions of splenic immune cells in mice, indicating routes of B. microti infections cause different impacts on immune response mechanisms in mice.
2.Study on the influencing factors of coronary artery lesions in patients with Kawasaki disease
Mediribek HASDAR ; Zhiqiang LIU ; Yuchun YANG ; Lei ZHANG ; Yati MUHU
Chongqing Medicine 2024;53(4):498-501,507
Objective To analyze the influencing factors of coronary artery lesions in patients with Ka-wasaki disease(KD)in Xinjiang.Methods A total of 1 500 KD patients who were treated in the First Affilia-ted Hospital of Xinjiang Medical University from December 2020 to December 2022 were selected as the re-search objects.According to whether coronary artery disease occurred,they were divided into two groups.886 patients with coronary artery lesions were included in the experimental group,and 614 patients without coro-nary artery lesions were included in the control group.Univariate and multivariate logistic regression analysis was used to analyze the risk factors of coronary artery lesions.Results The results of logistic regression anal-ysis showed that the duration of fever(>10 d),high Gensini score,high level of N-terminal pro-brain natri-uretic peptide(NT-proBNP),C-reactive protein(CRP),total cholesterol(TC),low-density lipoprotein cho-lesterol(LDL-C)and triglycerides(TG)may be risk factors for coronary artery lesions(P<0.05).Conclusion In clinical diagnosis and treatment,targeted intervention should be given as early as possible to prevent the occurrence of coronary artery lesions.
3.Analysis of the current situation and development trend of bone age assessment of children in China based on questionnaires
Fengsen BAI ; Xinyu YUAN ; Yimin MA ; Yang YANG ; Yuchun YAN ; Haiyan XIN ; Xiaoguang CHENG
Chinese Journal of Radiology 2024;58(2):225-228
Objective:Based on the questionnaire, to analyze the current status of children′s bone age assessment in China, especially the application of artificial intelligence (AI)-assisted bone age assessment system in the clinic.Methods:This was a cross-sectional study. The questionnaire was adapted by ourselves through the literature method and expert interview method, and the whole volume included 22 questions, which were released in the form of WeChat applet questionnaire star to the physician groups of several associations and entrusted to the radiology and paediatricians with senior titles. The results of the different types of questions were summarised and analyzed, and the chi-square test was used to compare the count data.Results:A total of 450 valid questionnaires were collected from 162 medical institutions in 26 provinces and cities and autonomous regions, of which 232 (51.6%) were from 87 (53.7%) tertiary hospitals and 218 (48.4%) from 75 (46.3%) secondary hospitals. Of the respondents, 115 (25.6%) were senior, 137 (30.4%) middle and 198 (44.0%) junior. Child bone age measurement was performed at 75.9% (66/87) of tertiary care organizations and 26.7% (20/75) of secondary care organizations, and the difference was statistically significant ( χ2=39.10, P<0.001). Left wrist radiographs were predominantly used for bone age assessment (76.0%, 123/162), with 72.8% (118/162) of sites using the ATLAS method of assessment and 17.9% (29/162) using the scoring method. A total of 98.4% (443/450) of respondents agreed that AI technology should be used to assist in bone age assessment, but only 9.3% (15/162) of healthcare organizations used AI-assisted technology. Conclusion:At present, bone age assessment is widely used in medical institutions, but there are problems with non-standardized examination methods, inconsistent assessment standards, and imprecise assessment results. Expectations for AI technology-assisted diagnosis exist among a wide range of physicians, but there are fewer users.
4.Prognostic factors for glioblastoma:a retrospective single-center analysis of 176 adults
Guohao HUANG ; Yongyong CAO ; Lin YANG ; Zuoxin ZHANG ; Yan XIANG ; Yuchun PEI ; Yao LI ; Wei CHEN ; Shengqing LYU
Journal of Army Medical University 2024;46(17):2002-2008
Objective To explore the clinical features,treatment and prognosis of glioblastomas(GBM)in adults.Methods A retrospective cohort study was performed on 176 adult GBM patients admitted to our department from January 2015 to December 2021.Chi-square test was used to investigate the clinical differences between isocitrate dehydrogenase(IDH)mutant and wild-type GBM.Kaplan-Meier and Log-Rank tests were employed to plot survival curve and compute the survival analysis.Multivariate Cox regression model was applied to identify the independent prognostic factors.Results IDH wild-type GBM account for 89.2%and had significantly differences from the IDH-mutant GBM in terms of age of onset,Karnofsky(KPS)score at admission,symptoms of neurological deficit,and methylation status of O6-methylguanine-DNA-methyltransferase(MGMT)promoter(P<0.05).For the IDH wild-type GBM patients receiving conventional therapy,univariate Cox hazard analysis showed gross total resection,methylation of MGMT promoter,initiation of radiation within the 5th to 6th week after surgery,and adjuvant temozolomide(TMZ)chemotherapy ≥6 cycles were favorable prognostic factors for overall survival(OS);GBMs in the left hemisphere,involvement of single lobe,methylation of MGMT promoter,and initiation of radiation within the 5th to 6th week after surgery were favorable prognostic factors for progression free survival(PFS)(all P<0.05).Moreover,multivariate Cox hazard regression analysis indicated that methylation of MGMT promoter,and initiation of radiation within the 5th to 6th week after surgery,and adjuvant TMZ chemotherapy ≥6 cycles were independent protective factors for OS,and GBMs in the left hemisphere,involvement of single lobe and methylation of MGMT promoter were independent protective factors for PFS in the GBM patients(all P<0.05).Conclusion The clinical and prognostic features are totally different between IDH mutant and wild-type GBM,and molecular detections are needed for the further pathological classification.Methylation of MGMT promoter is a primary marker of favorite prognosis for IDH wild-type GBM,and slightly delay in radiotherapy(the 5th to 6th week after surgery)can effectively improve the survival prognosis of IDH wild-type GBM.
5.Effect of different preoperative nutritional statuses on intraoperative unexpected hypothermia in elderly patients with laparoscopic gastrointestinal tumor radical operation and its risk factors analysis
Yuchun YANG ; Yuping HU ; Liyang WENG ; Tingting LIANG ; Tijun DAI
Chongqing Medicine 2024;53(19):2907-2910,2915
Objective To analyze the effect of preoperative nutritional status on the intraoperative un-expected hypothermia in elderly patients with laparoscopic gastrointestinal tumor radical operation and its risk factors.Methods The clinical case data in 282 elderly patients with laparoscopic gastrointestinal tumor radical surgery in the Fourth Affiliated Hospital of Nanjing Medical University from February 2021 to December 2023 were analyzed retrospectively.The mini nutritional assessment short form(MNA-SF)was adopted to e-valuate the preoperative nutritional status of the patients.The intraoperative unexpected hypothermia occur-rence were statistically analyzed.The univariate and multivariate logistic regression was used to analyze the in-fluencing factors.Results Among 282 patients,104 cases(36.88%)had unexpected hypothermia during op-eration.The incidence rate of intraoperative unexpected hypothermia in the patients with complicating malnu-trition or malnutritional risk was significantly higher than that in the patients with normal nutritional status(P<0.05).The multivariate logistic regression analysis showed that the age ≥70 years old,body mass index(BMI)<18.5 kg/m2,progressive weight loss appearance before surgery,preoperative MNA-SF score<12 points,CO2 pneumoperitoneum time>4 h and complicating hypoalbuminemia were the independent risk fac-tors for intraoperative unexpected hypothermia occurrence in the elderly patients with laparoscopic gastroin-testinal tumor radical operation(P<0.05),while the use of heating device for initiatively maintaining tem-perature during surgery was the protective factor for avoiding intraoperative unexpected hypothermia occur-rence(P<0.05).Conclusion The elderly patients with poor nutritional status undergoing laparoscopic gas-trointestinal tumor radical surgery are more likely to develop unexpected hypothermia.There are many influ-encing factors,so close attention should be paid to.
6.Low-dose aspirin in the prevention of pre-eclampsia in China: postpartum hemorrhage in subgroups of women according to their characteristics and potential bleeding risk
Jiahui CHEN ; Jing HUAI ; Li LIN ; Boya LI ; Yuchun ZHU ; Huixia YANG
Chinese Medical Journal 2023;136(5):550-555
Background::The APPEC study is a large-population randomized controlled trial in China evaluating the role of low-dose aspirin prophylactic treatment for pre-eclampsia. There was no statistically significant difference in postpartum hemorrhage (PPH) incidence between the aspirin and control groups. This study aimed to evaluate the potential bleeding risk of 100 mg aspirin in high-risk pregnant women and the difference in the incidence of PPH according to maternal characteristics.Methods::This is a secondary data analysis of the APPEC study. Platelet counts and coagulation test results were collected at five follow-up visits. Subgroups defined by maternal age (<35 years and ≥35 years), pre-pregnancy body mass index (pre-BMI, <28 kg/m 2 and ≥28 kg/m 2), parity, gestational age at enrollment, and medical history, including pre-eclampsia, chronic hypertension, and diabetes mellitus, were analyzed. Logistic regression analysis was used to determine the statistical significance of the difference in the incidence of PPH after aspirin administration in pregnant women in each subgroup. Adjustment using multiple logistic regression models followed these analyses. Binary logistic regression was used to determine the relationship between pre-BMI and PPH. Results::There was no significant difference between the aspirin and control groups in bleeding risk (3.4% [16/464] vs. 3.0% [13/434], T = 0.147, P = 0.701). No significant difference was found in the incidence of PPH in total (relative risk = 1.220, 95% confidence interval [CI] = 0.720–2.067, P = 0.459; aspirin group vs. control group, 6.5% [30/464] vs. 5.3% [23/434], P = 0.459) or in subgroup analysis. A significant correlation between pre-BMI and PPH was found in the aspirin group, while in the control group there was no significant correlation (aspirin group, odds ratio [OR] = 1.086, 95% CI = 1.004–1.175, P = 0.040; control group, OR= 1.060, 95% CI = 0.968–1.161, P = 0.209). Conclusions::A dosage of 100 mg of aspirin per day, initiated from 12 to 20 gestational weeks until 34 weeks of gestation, did not increase the risk of potential bleeding and PPH regardless of the maternal characteristic. In the aspirin group, the positive correlation between BMI and PPH was significant.Trial Registration::ClinicalTrials.gov, NCT01979627.
7.Predictive value of transvaginal ultrasound measurement of cervical length in first and second trimester on spontaneous preterm birth in singleton pregnancies
Qian WU ; Junya CHEN ; Xiaoxiao ZHANG ; Lixin FAN ; Yuchun ZHU ; Baihua JING ; Linlin WANG ; Ruina HUANG ; Chen LI ; Xiumei LI ; Huixia YANG
Chinese Journal of Perinatal Medicine 2022;25(5):326-331
Objective:To explore the predictive value of transvaginal ultrasound measurement of cervical length (CL) in the first and second trimester on spontaneous preterm birth in singleton pregnant women.Methods:This study retrospectively recruited 2 254 singleton pregnancies without severe comorbidities at Peking University First Hospital from January 2019 to June 2019. CL was measured for all subjects using transvaginal ultrasound in the first (11-13 +6 weeks) and second trimester (21-23 +6 weeks). Differences in CL between women with preterm (preterm group) and full-term delivery (full-term group) as well as the CL during the first and second trimester were compared. The independent risk factors for preterm birth and the predictive value of CL in the first and second trimester for spontaneous preterm birth were also explored. Fisher's exact test, t-test, χ2 test, and logistic regression analysis, etc, were adopted for statistical analysis. Results:(1) For the 2 254 subjects, CL measured in the first trimester and second trimester were (36.1±4.2) mm (22.4-52.6 mm) and (36.9±5.3) mm (2.9-59.7 mm), respectively. The incidence of short cervix in the first trimester and second trimester were 0.31% (7/2 254) and 1.46% (33/2 254), respectively. When CL was ≤25.0 mm ( OR=43.92, 95% CI:6.83-282.49) or >25.0-≤30.3 mm ( OR=6.59, 95% CI:1.97-22.0) in the first trimester, the risk of short cervix increased in the second trimester (both P<0.05). (2) The total incidence of preterm delivery was 3.06% (69/2 254). CL and the incidence of short cervix did not differ significantly in the first trimester between the preterm and full-term group [(35.2±4.5) and (36.1±4.1) mm, t=-1.78, P=0.076; 1.5% (1/69) and 0.3% (6/2 185), χ 2=2.98, P=0.084]. Compared with the full-term group, CL was shorter and the incidence of short cervix was higher in the second trimester in the preterm group [(33.6±6.7) vs (37.0±5.2) mm, t=-5.12;8.7% (6/69) vs 1.2% (27/2 185), χ 2=25.80, P<0.001]. (3) Multivariate regression analysis showed that age ≥35 years ( OR=2.05, 95% CI:1.22-3.46), history of spontaneous preterm birth ( OR=25.25, 95% CI:5.01-127.28), conception assisted by reproductive technology ( OR=10.39, 95% CI:2.39-50.33), and short cervix during the second trimester were independent risk factors for premature delivery. (4) There was no significant difference in the risk of preterm delivery when comparing to those with CL≤25.0 mm, >25.0-≤30.3 mm, >30.3-≤33.0 mm, >33.0-≤35.7 mm, >35.7-≤38.7 mm women with CL>38.7 mm during the first trimester (all P>0.05). The risk of premature delivery was relatively increased for those with CL≤25.0 mm,>25.0-≤29.5 mm, >29.5-≤33.6 mm, >33.6~≤36.8 mm, >36.8~≤40.1 mm during the second trimester compared to those with CL>40.1 mm [ OR (95% CI):17.64 (4.99-62.32), 6.89 (2.11-22.55), 3.58 (1.34-9.59), 4.04 (1.58-10.32), 3.34 (1.28-8.67), respectively , all P<0.05]. (5) When CL≤25.0 mm and ≤29.5 mm in the second trimester were used as the cut-off value, the prediction of preterm delivery was with a sensitivity of 8.70% and 17.39%, specificity of 98.80% and 95.29%, positive predictive value of 18.20% and 10.43%, negative predictive value of 97.16% and 97.34%, and the accuracy rate of 96.01% and 92.90%, respectively. Conclusions:There were no significant differences in CL and the incidence of short cervix during the first trimester among women with preterm or full-term delivery. CL in the first trimester is not an independent risk factor for preterm birth, but the risk of short cervix in the second trimester is increased when CL≤30.3 mm in the first trimester. The shorter the cervix during the second trimester, the greater the risk of preterm birth.
8.Study on the protective effect of rapamycin-treated dendritic cells on transfusion-related acute lung injury after infection
Li GAO ; Yiming YANG ; Rufeng XIE ; Yuchun GONG ; Juan SUN ; Xueyu JIANG ; Jie YANG
Chinese Journal of Blood Transfusion 2022;35(10):1005-1008
【Objective】 To investigate the viability of rapamycin-treated rapamycin-treated dendritic cells (DCs) in intervening transfusion-related acute lung injury (TRALI) after infection. 【Methods】 1)The TRALI mouse model was induced by lipopolysaccharide (LPS) combined with anti-H2Kd antibody. The mice anal temperature and the wet/dry ratio of lung, kidney, spleen and brain tissues were measured. 2) Mouse bone marrow-derived DC cells were induced in vitro and treated with rapamycin (10nM) for 24h. 3) Mice were injected with or without rapamycin or rapamycin-treated DC, then injected with LPS intraperitoneally one hour later, finally injected with anti-H2Kd antibody 24 hours later to induce the onset of TRALI. The death situation of the mice was observed and recorded. The condition of mice after the onset of TRALI was analyzed by mouse body temperature, lung wet-dry ratio, and pleural effusion weight and lung histopathological sections. 【Results】 By comparing the induction effects of anti-H2Kd antibody solutions with different concentrations and volumes, the mouse model induced by 0.1mg/kg LPS combined with 4.5 mg/kg anti-H2Kd antibody (infusion volume of 100μL) was selected as the TRALI mouse model for this study. After the onset of TRALI, the wet/dry ratio of the lungs could be significantly increased and the body temperature could be significantly reduced in the model mice. After the intervention of TRALI mice with DCs treated with rapamycin, the mortality rate was significantly reduced, and the lung tissue lesions of the mice were significantly improved, whose protection effect was better than that of the rapamycin-treated group. Compared with the TRALI incidence group, the weight of pleural effusion in the intervention group was significantly reduced (P<0.05), but there was no significant difference in lung wet/dry ratio and body temperature. 【Conclusion】 The combination of LPS and antibodies can effectively induce a stable and typical TRALI mouse model, suggesting that the presence of infectious inflammation and blood transfusion-related inflammatory substances are the decisive factor for the pathogenesis of TRALI. Meanwhile, DCs treated with rapamycin have a protective effect on post-infection transfusion-related acute lung injury, which is expected to be a potential cell therapy strategy to intervene in the exacerbation of TRALI.
9.Experimental study and clinical significance of intravascular angiography in vivo
Kun CHENG ; Na SU ; Qiuyao LI ; Xiaofei GAO ; Kun FENG ; Zhicheng YANG ; Haiqing HOU ; Yuchun LI ; Jianmin LI ; Guanghui WANG
Chinese Journal of Orthopaedics 2022;42(8):482-491
Objective:To study the method of intravascular angiography in vivo, analyze the clinical significance, and supply the basis of diagnosis and treatment of related orthopaedic diseases.Methods:The development was realized by improving the developer to increase the local concentration. Based on the study of Lijianmin-Chengkun Complexes and using the theory of magnetic microspheres, Fe 3O 4 magnetic microspheres with amino (negatively charged) shell are used to adsorb the aggregated ionic developer meglumine diatrizoate (positively charged diatrizoate). That is, by improving the method of developer, the magnetic microspheres can carry the developer to make new nanoparticles magnetic imaging composite particles. Under the action of external magnetic field, the magnetic imaging composite particles brought by blood circulation continue to stay and gather in the blood vessels in the magnetic field area, and the developer carried by the magnetic microspheres in the blood vessels in the magnetic field area is concentrated to reach the imaging concentration, so as to realize in vivo intravascular vascular imaging. By adjusting the ratio of the two reagents, the charge can be neutralized and condensed into small groups to improve the development efficiency. Thus, the electron microscope experiment, CT in vivo experiment, rabbit imaging experiment, experimental rabbit tissue picture confirmation, CT in vivo human body (the author is a volunteer) imaging experiment were carried out step by step. Results:Electron microscope experiment: meglumine diatrizoate, scanning electron microscope, the particle diameter is about 20 nm. Scanning electron microscope showed that the diameter of the magnetic microspheres was about 100 nm and the distribution was uniform. After the two reagents are mixed in a certain proportion, the neutralizing charge condenses into small groups, but it still has magnetohydrodynamic properties and strong paramagnetism. In vivo rabbit imaging experiment: the ideal intraosseous vascular imaging of the proximal tibia was captured. The tissue pictures of experimental rabbits confirmed that the distribution of Fe 3O 4 was obviously visible in the blood vessels in the proximal tibia on the side with magnetic field, but not on the side without magnetic field. In vivo human imaging experiment: the ideal intraosseous vascular imaging of the proximal fibula was captured. Conclusion:Through the preparation of new reagent of magnetic imaging composite particles (magnetic microspheres + meglumine diatrizoate), the concentration of in vivo bone developer can be achieved under the action of external magnetic field, and the in vivo external diameter ≥ 0.5mm can be achieved under CT thin-layer scanning.
10.Genomic Correlates of Unfavorable Outcome in Locally Advanced Cervical Cancer Treated with Neoadjuvant Chemoradiation
Yuchun WEI ; Chuqing WEI ; Liang CHEN ; Ning LIU ; Qiuxiang OU ; Jiani C. YIN ; Jiaohui PANG ; Zhenhao FANG ; Xue WU ; Xiaonan WANG ; Dianbin MU ; Yang SHAO ; Jinming YU ; Shuanghu YUAN
Cancer Research and Treatment 2022;54(4):1209-1218
Purpose:
Neoadjuvant therapy modality can increase the operability rate and mitigate pathological risks in locally advanced cervical cancer, but treatment response varies widely. It remains unclear whether genetic alterations correlate with the response to neoadjuvant therapy and disease-free survival (DFS) in locally advanced cervical cancer.
Materials and Methods:
A total of 62 locally advanced cervical cancer (stage IB-IIA) patients who received neoadjuvant chemoradiation plus radical hysterectomy were retrospectively analyzed. Patients’ tumor biopsy samples were comprehensively profiled using targeted next generation sequencing. Pathologic response to neoadjuvant treatment and DFS were evaluated against the association with genomic traits.
Results:
Genetic alterations of PIK3CA were most frequent (37%), comparable to that of Caucasian populations from The Cancer Genome Atlas. The mutation frequency of genes including TERT, POLD1, NOS2, and FGFR3 was significantly higher in Chinese patients whereas RPTOR, EGFR, and TP53 were underrepresented in comparison to Caucasians. Germline mutations were identified in 21% (13/62) of the cohort and more than half (57%) had mutations in DNA damage repair genes, including BRCA1/2, TP53 and PALB2. Importantly, high tumor mutation burden, TP53 polymorphism (rs1042522), and KEAP1 mutations were found to be associated with poor pathologic response to neoadjuvant chemoradiation treatment. KEAP1 mutations, PIK3CA-SOX2 co-amplification, TERC copy number gain, and TYMS polymorphism correlated with an increased risk of disease relapse.
Conclusion
We report the genomic profile of locally advanced cervical cancer patients and the distinction between Asian and Caucasian cohorts. Our findings highlight genomic traits associated with unfavorable neoadjuvant chemoradiation response and a higher risk of early disease recurrence.

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