1.Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas
Yaolin SONG ; Guangqi LI ; Zhenqi ZHANG ; Yinbo LIU ; Huiqing JIA ; Chao ZHANG ; Jigang WANG ; Yanjiao HU ; Fengyun HAO ; Xianglan LIU ; Yunxia XIE ; Ding MA ; Ganghua LI ; Zaixian TAI ; Xiaoming XING
Cancer Research and Treatment 2025;57(1):250-266
Purpose:
The genomic characteristics of uterine sarcomas have not been fully elucidated. This study aimed to explore the genomic landscape of the uterine sarcomas (USs).
Materials and Methods:
Comprehensive genomic analysis through RNA-sequencing was conducted. Gene fusion, differentially expressed genes (DEGs), signaling pathway enrichment, immune cell infiltration, and prognosis were analyzed. A deep learning model was constructed to predict the survival of US patients.
Results:
A total of 71 US samples were examined, including 47 endometrial stromal sarcomas (ESS), 18 uterine leiomyosarcomas (uLMS), three adenosarcomas, two carcinosarcomas, and one uterine tumor resembling an ovarian sex-cord tumor. ESS (including high-grade ESS [HGESS] and low-grade ESS [LGESS]) and uLMS showed distinct gene fusion signatures; a novel gene fusion site, MRPS18A–PDC-AS1 could be a potential diagnostic marker for the pathology differential diagnosis of uLMS and ESS; 797 and 477 uterine sarcoma DEGs (uDEGs) were identified in the ESS vs. uLMS and HGESS vs. LGESS groups, respectively. The uDEGs were enriched in multiple pathways. Fifteen genes including LAMB4 were confirmed with prognostic value in USs; immune infiltration analysis revealed the prognositic value of myeloid dendritic cells, plasmacytoid dendritic cells, natural killer cells, macrophage M1, monocytes and hematopoietic stem cells in USs; the deep learning model named Max-Mean Non-Local multi-instance learning (MMN-MIL) showed satisfactory performance in predicting the survival of US patients, with the area under the receiver operating curve curve reached 0.909 and accuracy achieved 0.804.
Conclusion
USs harbored distinct gene fusion characteristics and gene expression features between HGESS, LGESS, and uLMS. The MMN-MIL model could effectively predict the survival of US patients.
2.Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas
Yaolin SONG ; Guangqi LI ; Zhenqi ZHANG ; Yinbo LIU ; Huiqing JIA ; Chao ZHANG ; Jigang WANG ; Yanjiao HU ; Fengyun HAO ; Xianglan LIU ; Yunxia XIE ; Ding MA ; Ganghua LI ; Zaixian TAI ; Xiaoming XING
Cancer Research and Treatment 2025;57(1):250-266
Purpose:
The genomic characteristics of uterine sarcomas have not been fully elucidated. This study aimed to explore the genomic landscape of the uterine sarcomas (USs).
Materials and Methods:
Comprehensive genomic analysis through RNA-sequencing was conducted. Gene fusion, differentially expressed genes (DEGs), signaling pathway enrichment, immune cell infiltration, and prognosis were analyzed. A deep learning model was constructed to predict the survival of US patients.
Results:
A total of 71 US samples were examined, including 47 endometrial stromal sarcomas (ESS), 18 uterine leiomyosarcomas (uLMS), three adenosarcomas, two carcinosarcomas, and one uterine tumor resembling an ovarian sex-cord tumor. ESS (including high-grade ESS [HGESS] and low-grade ESS [LGESS]) and uLMS showed distinct gene fusion signatures; a novel gene fusion site, MRPS18A–PDC-AS1 could be a potential diagnostic marker for the pathology differential diagnosis of uLMS and ESS; 797 and 477 uterine sarcoma DEGs (uDEGs) were identified in the ESS vs. uLMS and HGESS vs. LGESS groups, respectively. The uDEGs were enriched in multiple pathways. Fifteen genes including LAMB4 were confirmed with prognostic value in USs; immune infiltration analysis revealed the prognositic value of myeloid dendritic cells, plasmacytoid dendritic cells, natural killer cells, macrophage M1, monocytes and hematopoietic stem cells in USs; the deep learning model named Max-Mean Non-Local multi-instance learning (MMN-MIL) showed satisfactory performance in predicting the survival of US patients, with the area under the receiver operating curve curve reached 0.909 and accuracy achieved 0.804.
Conclusion
USs harbored distinct gene fusion characteristics and gene expression features between HGESS, LGESS, and uLMS. The MMN-MIL model could effectively predict the survival of US patients.
3.Integrated Transcriptomic Landscape and Deep Learning Based Survival Prediction in Uterine Sarcomas
Yaolin SONG ; Guangqi LI ; Zhenqi ZHANG ; Yinbo LIU ; Huiqing JIA ; Chao ZHANG ; Jigang WANG ; Yanjiao HU ; Fengyun HAO ; Xianglan LIU ; Yunxia XIE ; Ding MA ; Ganghua LI ; Zaixian TAI ; Xiaoming XING
Cancer Research and Treatment 2025;57(1):250-266
Purpose:
The genomic characteristics of uterine sarcomas have not been fully elucidated. This study aimed to explore the genomic landscape of the uterine sarcomas (USs).
Materials and Methods:
Comprehensive genomic analysis through RNA-sequencing was conducted. Gene fusion, differentially expressed genes (DEGs), signaling pathway enrichment, immune cell infiltration, and prognosis were analyzed. A deep learning model was constructed to predict the survival of US patients.
Results:
A total of 71 US samples were examined, including 47 endometrial stromal sarcomas (ESS), 18 uterine leiomyosarcomas (uLMS), three adenosarcomas, two carcinosarcomas, and one uterine tumor resembling an ovarian sex-cord tumor. ESS (including high-grade ESS [HGESS] and low-grade ESS [LGESS]) and uLMS showed distinct gene fusion signatures; a novel gene fusion site, MRPS18A–PDC-AS1 could be a potential diagnostic marker for the pathology differential diagnosis of uLMS and ESS; 797 and 477 uterine sarcoma DEGs (uDEGs) were identified in the ESS vs. uLMS and HGESS vs. LGESS groups, respectively. The uDEGs were enriched in multiple pathways. Fifteen genes including LAMB4 were confirmed with prognostic value in USs; immune infiltration analysis revealed the prognositic value of myeloid dendritic cells, plasmacytoid dendritic cells, natural killer cells, macrophage M1, monocytes and hematopoietic stem cells in USs; the deep learning model named Max-Mean Non-Local multi-instance learning (MMN-MIL) showed satisfactory performance in predicting the survival of US patients, with the area under the receiver operating curve curve reached 0.909 and accuracy achieved 0.804.
Conclusion
USs harbored distinct gene fusion characteristics and gene expression features between HGESS, LGESS, and uLMS. The MMN-MIL model could effectively predict the survival of US patients.
4.Impact of LncRNA DSCAM-AS1 on the malignant biological behaviors of thyroid cancer cells by regulat-ing the miR-150-5p/BRAF axis
Yun PENG ; Meiling WEN ; Yunxia LV ; Wanzhi CHEN ; Chun HE ; Jian-Ping YU ; Zhenluo DING
The Journal of Practical Medicine 2023;39(23):3043-3050
Objective To investigate the impact of lncRNA DSCAM-AS1 on the malignant biological behaviors of thyroid cancer(TC)cells by regulating the miR-150-5p/BRAF axis.Methods The expression of DSCAM-AS1 in TC cells was detected by qRT-PCR,and the best intervention cell line was screened.;the relationship between DSCAM-AS1,BRAF and miR-150-5p targeting regulation was verified by FISH,pull down and double Luciferase reporter gene experiment;The proliferation,migration and invasion of SW579 cells were detected;Western blot was applied to detect the expression of BRAF,E-Cadherin,and vimentin proteins;the tumor formation experiment in mice was applied to verify the effect of DSCAM-AS1 on TC tumor growth.Results DSCAM-AS1 was highly expressed in TC tissue and cells(P<0.05);There is a targeted regulation relationship between DSCAM-AS1,BRAF and miR-150-5p;inhibition of DSCAM-AS1 expression or overexpression of miR-150-5p obviously inhibited the proliferation,migration,invasion,and EMT of SW579 cells(P<0.05);Inhibition of miR-150-5p expression or overexpression of BRAF reversed the inhibitory effect of inhibition of DSCAM-AS1 expression or overexpression of miR-150-5p on the malignant behavior of SW579 cells(P<0.05);in vivo experiments showed that inhibiting the expression of DSCAM-AS1 obviously inhibited the growth of transplanted tumors in mice(P<0.05).Conclusion DSCAM-AS1 is up-regulated in TC cells,inhibiting the expression of LncRNA DSCAM-AS1 can inhibit the malignant progression of TC by regulating the miR-150-5p/BRAF signaling axis.
5.Maternal heterozygous mutation in CHEK1 leads to mitotic arrest in human zygotes.
Beili CHEN ; Jianying GUO ; Ting WANG ; Qianhui LEE ; Jia MING ; Fangfang DING ; Haitao LI ; Zhiguo ZHANG ; Lin LI ; Yunxia CAO ; Jie NA
Protein & Cell 2022;13(2):148-154
6.Effect of melatonin on in vitro fertilization embryo transfer treatment in patients with decreasing ovarian reserve
Kaijuan Wang ; Qi Zhu ; Ding Ding1 ; Chao Zhang ; Yunxia Cao ; Beili Chen ; Zhiguo Zhang
Acta Universitatis Medicinalis Anhui 2022;57(1):6-9
Objective :
To investigate whether the application of melatonin (MT) in embryo culture in vitro can improve the treatment effect of in vitro fertilization embryo transfer(IVF⁃ET) in patients with decreasing ovarian reserve (DOR) .
Methods :
128 DOR patients receiving assisted reproductive therapy were collected. All patients were treated with an antagonist scheme of super⁃ovulation. Patients were divided into melatonin group (n = 56) and control group (n = 72) according to whether melatonin ( melatonin concentration 10 - 9 mol/L) was added into embryo culture medium.
Results :
There was no statistically significant difference in oocytes fertilization rate and cleavage rate between the two groups during later embryo culture , but blastocyst formation rate ( 65. 22% vs 56. 16% ) and high⁃quality blastocyst rate (52. 96% vs 40. 94% ) in the melatonin group were higher than those in the control group , and the differences were statistically significant ( P < 0. 05 ) . There were no significant differences in the implantation rate (50. 00% vs 38. 67% ) and clinical pregnancy rate (48. 39% vs 46. 00% ) of blastocysts after freezing⁃thawing between the two groups , but the cycle number of high⁃quality blastocysts obtained in the melatonin group was higher than that in the control group (85. 71% vs 69. 44% ) , and the difference was statistically significant (P < 0. 05) .
Conclusion
In a way , the application of melatonin in the in vitro culture of early embryos can promote the development of oocytes in patients with DOR , improve the quality of embryos , and finally substantially improve the therapeutic effect of such patients.
7.Effect of melatonin on embryo development after fertilization of in vitro matured oocytes in controlled ovarian hyperstimulation cycles
Qi Zhu ; Ding Ding ; Kaijuan Wang ; Ran Huo ; Xuesen Zhang ; Tingting Liu ; Yunxia Cao ; Zhiguo Zhang
Acta Universitatis Medicinalis Anhui 2022;57(4):616-621
Objective:
To explore the effects of melatonin(MT) on the fertilization of in vitro matured oocytes in controlled ovarian hyperstimulation(COH) cycles and the development of subsequent embryos.
Methods:
Imma-ture human oocytes from COH cycles were collected for in vitro maturation(IVM) culture and intracytoplasmic sperm injection( ICSI) insemination,and then the cleavage embryo and blastocyst culture medium supplemented with 0,10-11,10-9,10-7or 10-5mol/L MT were used in order to perform embryo culture in vitro,next the formed high-quality blastocysts were picked up and cryopreserved via vitrification,finally,array-CGH technology was used to detect aneuploidy of rewarmed high-quality blastocysts.
Results:
The blastocyst rate of 10-9mol/L group was significantly higher than that of 10-11,10-7,10-5and 0 mol/L groups( P<0. 05,P<0. 01,P<0. 000 1,P<0. 01),respectively; the high-quality blastocyst rate of 10-9mol/L group was higher than that of other groups,but there were only significant differences compared with 10-5mol/L and 0 mol/L groups( P<0. 01,P<0. 05); the incidence of aneuploidy in MT group( 17. 6%) was lower than that in non-MT group( 33. 3%),but no significant difference was found.
Conclusion
The addition of MT to human embryo culture medium can promote the in vitro development of embryo,which is related to concentration,and 10-9mol/L is the optimal concentration.
8. Clinical analysis of 5 cases of dural arteriovenous fistulas complained of pulsatile tinnitus
Xiaodong JIA ; Weixing BAI ; Yunxia GENG ; Guangke WANG ; Shaoguang DING ; Hongjian LIU
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2020;55(1):56-59
Objective:
The clinical characteristics of dural arteriovenous fistula with pulsatile tinnitus were analyzed to deepen the understanding of the disease.
Methods:
The clinical data of five patients complained of pulsatile tinnitus and diagnosed dural arteriovenous fistula in Henan People's Hospital from May 2013 to June 2018 were retrospectively analyzed, including 3 males and 2 females, aged 27-65 years.
Results:
The main clinical symptoms of the five patients were continuous pulsatile tinnitus, accompanied/not accompanied by headache, memory decline, etc., with a course of three months to 20 years. They were diagnosed as dural arteriovenous fistula by digital subtraction angiography, and three cases of tinnitus disappeared and two cases of tinnitus were relieved after embolization.
Conclusions
The dural arteriovenous fistula is a rare and complicated disease. When the patient complain of the pulsatile tinnitus, the related etiology should be considered and managed properly.
9. Imaging evaluation of ischemic penumbra in patients with acute ischemic stroke
Shuaili XU ; Di WU ; Yunxia DUAN ; Yuchuan DING
International Journal of Cerebrovascular Diseases 2019;27(11):837-842
In recent years, for patients with acute ischemic stroke due to large vessel occlusion, intravascular mechanical thrombectomy has become the most recommended treatment method. Determining whether there is ischemic penumbra or not is very important for the selection of patients who are suitable for endovascular mechanical thrombectomy. In addition, the ischemic penumbra also provides guidance for extending the time window of traditional intravenous thrombolytic therapy. This article reviews the imaging evaluation methods of ischemic penumbra.
10.Local brain hypothermia and nicotinamide phosphoribosyltransferase synergistically protect cerebral ischemia-reperfusion injury in rats
Xiaoduo HE ; Yunxia DUAN ; Jingfei SHI ; Di WU ; Yuchuan DING
International Journal of Cerebrovascular Diseases 2019;27(4):267-272
Objective To investigate the neuroprotective effect and its mechanism of local hypothermia combined with nicotinamide phosphoribosyltransferase (NAMPT) on cerebral ischemia-reperfusion injury in rats.Methods Fifty-four Sprague-Dawley rats were randomly divided into sham operation group,model group,NAMPT group,local hypothermia group,and combined treatment group (NAMPT + local hypothermia).A rat model of local cerebral ischemia-reperfusion was induced by suture method.Infarct volume and cerebral edema volume were assessed by 2,3,5-triphenyltetrazolium chloride staining after 2 h cerebral ischemia and 24 h reperfusion in rats.Evans blue staining was used to assess the extent of blood-brain barrier damage,and a 12-point scale was used to assess neurological deficits.Results The infarct volume in the local hypothermia group,NAMPT group,and combination treatment group was significantly lower than that in the model group (all P <0.05).The infarct volume in the combination treatment group was significantly lower than that in the NAMPT group (P <0.05).The infarct volume in the combination treatment group was lower than that in the local hypothermia group,but it did not reach statistical significance.The neurological function scores of the local hypothermia group,NAMPT group,and combination treatment group were significantly lower than those of the model group (all P <0.05).The score of the combined treatment group was significantly lower than that of the NAMPT group and the local hypothermia group (all P<0.05).Evans blue leakage in the local hypothermia group,NAMPT group,and combination treatment group was lower than that in the model group (all P <0.05),but the differences between each treatment group were not statistically significant.Conclusion NAMPT and local hypothermia combination therapy showed better neuroprotective effects on cerebral ischemia-reperfusion injury,suggesting that the combination therapy had clinical transformation prospects.


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