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.Analysis of the pre-metabolic disease state based on the theory of "overflow of Wu Qi"
Qing HE ; Zirong LI ; Qiaoli YANG ; Jing LIN ; Guangqi WANG ; Jin QIN ; Shangjian LIU
International Journal of Traditional Chinese Medicine 2024;46(3):278-282
The pre-metabolic disease state is the body state of substance metabolism disorder that has not yet reached the physical and chemical indicators of the disease, and abnormal glucose metabolism is often the key link of metabolic disorder. In TCM, the healthy function of the spleen is the cornerstone of the production and distribution of fine substances. This article discussed the pre-metabolic disease state based on the theory of "overflow of Five Qi" in the Nei Jing, taking the loss of spleen preparedness as the starting point, in order to provide new ideas and directions for the prevention and treatment of clinical metabolic diseases.
5.Clinicopathologic and molecular genetic featuresof metastatic follicular thyroid carcinoma:analyses of 22 cases
Wenwen RAN ; Yixuan LIU ; Weimao KONG ; Qianqian QIAO ; Guangqi LI ; Jigang WANG
Chinese Journal of Clinical and Experimental Pathology 2023;39(12):1453-1459
ABSTARCT Purpose To investigate the clinicopathologic characteristics and genetic mutations of metastatic follicular thy-roid carcinoma(FTC).Methods A total of 22 cases of meta-static FTC were collected,including previous medical history,imaging,treatments and outcomes,and next-generation sequen-cing study and Sanger sequencing were performed in 12 cases.Results There were 16 women and 6 men.Sixteen cases were older than 50 years.Seven cases presented with metastases as the first symptom.Fourteen cases developed metastases 3 to 12 years after thyroid surgery.Sixteen cases developed bone metas-tasis,10 cases had lung metastasis,and 3 cases had brain me-tastasis.Those patients with multiple bone metastases progressed during the follow-up period.The common gene mutations in me-tastases were NRAS p.Q61R(6 cases),HRAS p.Q61R(2 ca-ses)and KRAS p.Q61R(1 case),followed by TERT promoter mutation(8 cases).Other mutated genes included KEL,BRCA1/2,ALK,ROS1,ErbB4,etc.Conclusion FTC has a high misdiagnosis rate.Those diagnosed with FTC should under-go regular systemic examinations to detect potential metastasis,especially in bone,lung,and brain.Further research on the sig-nificance of NRAS and other molecular indicators in FTC metas-tasis will help to better predict its biological behaviors.
6.Quantitative analysis of the measurements in retinal capillary nonperfusion areas in proliferative diabetic retinopathy patients
Rui WANG ; Xuemin JIN ; Guangqi AN ; Shuangshuang LI ; Shuai MING ; Bo LEI
Chinese Journal of Ocular Fundus Diseases 2021;37(2):104-108
Objective:To compare the quantitative measurements of the retinal capillary nonperfusion areas in a cohort of proliferative diabetic retinopathy (PDR) patients with fluorescein fundus angiography (FFA) and swept source optical coherence tomography angiography (SS-OCTA), and to determine the intrapersonal variability between examiners.Methods:A cross-sectional study. Eighteen eyes of eleven PDR patients diagnosed in Department of ophthalmology of Henan Provincial People's Hospital from September 2019 to January 2020 were included in this study. FFA was performed using Spectralis HRA+OCT (Germany Heidelberg Company) from and SS-OCTA was performed using VG200D (China Vision Micro Image Corporation). SS-OCTA was used to collect images of retinal layer, superficial capillary plexus (SCP) and deep capillary plexus (DCP). The same observation area was 80°×60° for SS-OCTA and 55° for FFA with both setting centered on the fovea. The forty-nine retinal capillary nonperfusion areas were observed. The area measurement was completed independently by three examiners. Paired sample t test or paired sample Wilcoxon test were used to compare the measured values of retinal capillary nonperfusion areas between the two examination methods and among the three examiners. Results:There was no significant difference in the retinal layer, SCP and DCP nonperfusion area measured by FFA and SS-OCTA among the three examiners ( P>0.05), and the consistency is good (consistency correlation coefficient> 0.9, P<0.05). The nonperfusion area measured by FFA was 0.786 mm 2. The median nonperfusion area of retinal layer and SCP measured by SS-OCTA were 0.787 mm 2 and 0.791 mm 2, respectively, and the average nonperfusion area of DCP was 0.878±0.366 mm 2. The nonperfusion area of retinal layer and SCP measured by FFA and SS-OCTA showed no statistically significant difference ( P=0.054, 0.198). The nonperfusion area of DCP measured by SS-OCTA was significantly larger than that of FFA, and the difference was statistically significant ( P<0.001). The results of repeatability analysis showed that 93.88% (46/49) of the DCP nonperfusion area data measured by SS-OCTA were greater than those measured by FFA. Conclusion:The retinal nonperfusion area of DCP in PDR patients measured by SS-OCTA is larger than that of FFA.
7.Risk factors of neurologic complications after surgical resection of carotid body tumor
Jinsong WANG ; Yonghui LI ; Chen YAO ; Guangqi CHANG ; Zuojun HU ; Zilun LI ; Mian WANG ; Shenming WANG
Chinese Journal of General Surgery 2020;35(3):191-194
Objective:To investigate risk factors of nerve injury after carotid body tumor resection.Methods:From 1991 to 2016, the clinical data of patients with neurologic complications after resection of carotid body tumor was retrospectively analyzed. Logistic regression analysis was used to investigate the risk factors of nerve injury.Results:A total of 132 patients with 142 tumors underwent surgery. 45 patients (46 sides) suffered nerve injury, including 4 strokes and 44 nerve injuries. After active rehabilitation, 18 cases were left with permanent nerve injury, and the 4 patients with strokes regained self-care ability. By multivariate regression analysis, high-lying tumors ( OR=4.345, P=0.005), Shamblin Ⅲ tumor ( OR=4.382, P=0.047) increase the risks of postoperative nerve injury. Resection of high-lying tumors carried a higher risk of developing permanent nerve injury ( OR=7.290, P=0.001). Conclusions:Neurologic complication could be alleviated by rehabilitation. Intraoperative abrupt rupture of carotid artery is the leading cause of stroke. Shamblin Ⅲ and high-lying tumor are the predictors of postoperative nerve injury.
8.Mid- and long-term results of endovascular aneurysm repair for abdominal aortic aneurysms: a single center′s experience for 10 years
Rui WANG ; Chen YAO ; Jinsong WANG ; Zuojun HU ; Mian WANG ; Zilun LI ; Ridong WU ; Siwen WANG ; Junjie NING ; Yuansen QIN ; Yi SHI ; Jin CUI ; Guangqi CHANG
Chinese Journal of Surgery 2020;58(11):841-846
Objective:To examine the mid- and long-term outcomes of endovascular aneurysm repair (EVAR).Methods:This was a retrospective cohort study of 540 patients with abdominal aortic aneurysm who received EVAR at Department of Vascular Surgery, The First Affiliated Hospital, Sun Yat-sen University from January 2009 to December 2018. There were 503 males and 37 females, aged of (69±8) years (range: 44 to 87 years). Clinical data including concomitant disease, aneurysm size and surgical data were collected and patients were followed up after operation. The cumulative survival rate was assessed using the Kaplan-Meier estimator and multivariate Cox regression was used to analyze the independent prognosis factors.Results:The technical success rate was 91.1% (492/540). The perioperative mortality rate was 1.3% (7/540) and the follow-up rate was 91.7% (489/533). The median follow-up time was 45(63) months (range: 1 to 133 months). The all-cause mortality rate was 21.3% (104/489) and the aneurysm-related mortality rate was 6.3% (31/489) during follow-up period. The overall cumulative survival rate of 1-, 3-, 5- and 10-year were 95.1%, 84.0%, 69.5% and 38.6%, respectively, while freedom from aneurysm-related death were 98.4%, 93.3%, 88.4% and 84.4%. During the follow-up period, the complications rate was 9.0% (44/489), and the re-intervention rate was 4.9% (24/489). Cox regression analysis showed that elder age ( HR=2.15, 95 %CI: 1.41 to 3.26, P<0.01), preoperative aneurysm rupture ( HR=2.72, 95 %CI: 1.78 to 4.15, P<0.01) and short neck aneurysm ( HR=1.97, 95 %CI: 1.07 to 3.61, P=0.029) were independent prognosis factors for long-term survival after EVAR. Connclusion:EVAR has low perioperative mortality, high technical success rate, and satisfactory mid-and long-term outcomes.
9.Clinicopathological features and gene phenotypes of benign metastasizing leiomyoma
Shasha HU ; Lili WANG ; Han ZHAO ; Guangqi LI ; Xiaobin JI ; Fangjie XIN ; Jigang WANG
Chinese Journal of Pathology 2020;49(7):704-709
Objective:To study the clinicopathological features, immunophenotypes and MED12 gene status in benign metastasizing leiomyoma (BML).Methods:Nine cases of BML diagnosed at the Affiliated Hospital of Qingdao University from 2012 to 2018 were collected, and the radiologic and histologic features were analyzed. The protein expression of leiomyosarcoma-related driver genes, including RB1, PTEN,ATRX,p16,p53, as well as ER,PR,CD34,FH, and Ki-67 were detected using immunohistochemistry, and the mutation status of MED12 gene exon 2 was detected by Sanger sequencing.Results:All the nine patients with BML were female, and the age range was 48 to 64 years (median 55 years). All patients had history of uterine fibroids. The morphologic features of BML were similar to a benign uterine leiomyoma and did not exhibit malignant characteristics. All cases were positive for ER and PR, and negative for CD34. In addition, RB1, PTEN, ATRX, and FH were positive in all cases (wild type), while p16 showed a focally positive pattern. P53 positive index was less than 5% (wild type), and Ki-67 positive index was less than 1%. Sanger sequencing was done in six BML samples; one sample harbored a nonsense mutation c. 142_144delinsTAA (p.Glu48Ter), and another exhibited a synonymy mutation (c.192C>T, p.Phe64=)and one missense mutation c.196C>T (p.Pro66Ser).Conclusions:The present study suggests that BML is a unique leiomyoma entity that is pathologically and genetically different from leiomyosarcomas and conventional uterine leiomyomas. Evaluating the genetic phenotype of BML, especially the expression of leiomyosarcoma-related driver genes protein and MED12 gene status, may be helpful in understanding the pathogenesis of BML and in its differentiation from leiomyosarcoma.
10.Medication treatment of Kaposiform hemangioendothelioma and tufted angioma: a meta-analysis of proportions
Luying WANG ; Shaohua LI ; Xiaoyun YE ; Renrong LYU ; Guangqi XU ; Jianhai BI ; Ran HUO
Chinese Journal of Plastic Surgery 2020;36(4):375-384
Objective:To assess the efficacy and safety of common medication treatments on Kaposiform hemangioendothelioma (KHE) and tufted angioma (TA).Methods:PubMed, Embase, Web of Science, CNKI and Wanfang database were searched to find out the observational studies on medication treatment of KHE and TA. R-3.6.2 was used for calculate the pooled response rate and pooled adverse events rate. Meta analyses were performed according to KHE and TA with and without Kasabach-Merritt phenomenon (KMP) respectively. SPSS 22.0 was used to compare the pooled rates among each therapy.Results:A total of 30 studies regarding the medication treatment of KHE and TA were identified in this meta-analysis. Analyzed medicines included glucocorticoid, vincristine, sirolimus, propranolol, combination therapy of vincristine and glucocorticoid. The pooled results indicated that when referring therapy on KHE and TA with KMP, the pooled response rate of combination therapy (98.34%) and sirolimus (96.43%) was higher than that of other therapies, and the difference was statistically significant. The pooled adverse events rate of sirolimus (5.53%) was relatively higher than other modalities, with no statistically significance. As for therapy on KHE and TA without KMP, sirolimus (94.23%) had higher pooled response rate than glucocorticoid (31.25%), vincristine (46.15%) and propranolol (22.86%), with statistically significant differences. The pooled adverse events rate of sirolimus was 23.81%.Conclusions:Our findings indicate that for KHE and TA with KMP, combination therapy (sirolimus + glucocorticoid) and vincristine have the best efficacy, while the adverse events rate of sirolimus is relatively high. For KHE and TA without KMP, sirolimus has the highest response rate, but there is also a risk of serious adverse events. Glucocorticoid and vincristine have comparable response rate, which both inferior to sirolimus.

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