1.Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training.
Xiaoju HUANG ; Lin HAN ; Li CAO ; Taosheng HUANG ; Duan MA ; Jian WANG ; Wenjuan QIU ; Fanyi ZENG ; Luming SUN ; Chenming XU ; Songchang CHEN ; Xinyu KUANG ; Hong TIAN
Chinese Journal of Medical Genetics 2026;43(4):241-247
OBJECTIVE:
To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.
METHODS:
By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.
RESULTS:
The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.
CONCLUSION
Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans
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China
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Surveys and Questionnaires
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Genetic Diseases, Inborn/genetics*
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Cross-Sectional Studies
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Genetics, Medical/education*
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Genetic Testing
2.Shionone protects cerebral ischemic injury through alleviating microglia-mediated neuroinflammation.
Lushan XU ; Chenggang LI ; ChenChen ZHAO ; Zibu WANG ; Zhi ZHANG ; Xin SHU ; Xiang CAO ; Shengnan XIA ; Xinyu BAO ; Pengfei SHAO ; Yun XU
Chinese Journal of Natural Medicines (English Ed.) 2025;23(4):471-479
Microglia, the resident immune cells in the central nervous system (CNS), rapidly transition from a resting to an active state in the acute phase of ischemic brain injury. This active state mediates a pro-inflammatory response that can exacerbate the injury. Targeting the pro-inflammatory response of microglia in the semi-dark band during this acute phase may effectively reduce brain injury. Shionone (SH), an active ingredient extracted from the dried roots and rhizomes of the genus Aster (Asteraceae), has been reported to regulate the inflammatory response of macrophages in sepsis-induced acute lung injury. However, its function in post-stroke neuroinflammation, particularly microglia-mediated neuroinflammation, remains uninvestigated. This study found that SH significantly inhibited lipopolysaccharide (LPS)-induced elevation of inflammatory cytokines, including interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α), and inducible nitric oxide synthase (iNOS), in microglia in vitro. Furthermore, the results demonstrated that SH alleviated infarct volume and improved behavioral performance in middle cerebral artery occlusion (MCAO) mice, which may be attributed to the inhibition of the microglial inflammatory response induced by SH treatment. Mechanistically, SH potently inhibited the phosphorylation of serine-threonine protein kinase B (AKT), mammalian target of rapamycin (mTOR), and signal transducer and activator of transcription 3 (STAT3). These findings suggest that SH may be a potential therapeutic agent for relieving ischemic stroke (IS) by alleviating microglia-associated neuroinflammation.
Animals
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Microglia/immunology*
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Mice
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Male
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Mice, Inbred C57BL
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Brain Ischemia/immunology*
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Neuroinflammatory Diseases/drug therapy*
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Neuroprotective Agents/administration & dosage*
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Interleukin-1beta/genetics*
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STAT3 Transcription Factor/genetics*
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TOR Serine-Threonine Kinases/genetics*
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Tumor Necrosis Factor-alpha/genetics*
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Proto-Oncogene Proteins c-akt/immunology*
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Nitric Oxide Synthase Type II/genetics*
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Lipopolysaccharides
3.Advancements and applications in radiopharmaceutical therapy.
Shiya WANG ; Mingyi CAO ; Yifei CHEN ; Jingjing LIN ; Jiahao LI ; Xinyu WU ; Zhiyue DAI ; Yuhan PAN ; Xiao LIU ; Xian LIU ; Liang-Ting LIN ; Jianbing WU ; Ji LIU ; Qifeng ZHONG ; Zhenwei YUAN
Chinese Journal of Natural Medicines (English Ed.) 2025;23(6):641-657
Radiopharmaceuticals operate by combining radionuclides with carriers. The radiation energy emitted by radionuclides is utilized to selectively irradiate diseased tissues while minimizing damage to healthy tissues. In comparison to external beam radiation therapy, radionuclide drugs demonstrate research potential due to their biological targeting capabilities and reduced normal tissue toxicity. This article reviews the applications and research progress of radiopharmaceuticals in cancer treatment. Several key radionuclides are examined, including 223Ra, 90Y, Lutetium-177 (177Lu), 212Pb, and Actinium-225 (225Ac). It also explores the current development trends of radiopharmaceuticals, encompassing the introduction of novel radionuclides, advancements in imaging technologies, integrated diagnosis and treatment approaches, and equipment-medication combinations. We review the progress in the development of new treatments, such as neutron capture therapy, proton therapy, and heavy ion therapy. Furthermore, we examine the challenges and breakthroughs associated with the clinical translation of radiopharmaceuticals and provide recommendations for the research and development of novel radionuclide drugs.
Humans
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Radiopharmaceuticals/therapeutic use*
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Neoplasms/radiotherapy*
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Radioisotopes/therapeutic use*
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Animals
4.Diagnostic value of high frequency ultrasonography in acute phase of peripheral facial paralysis
Xinyu JIAO ; Ying GUO ; Hongpeng LIU ; Pengyu ZHU ; Yu CAO ; Wei CHEN ; Hong HUO ; Dan XIE
The Journal of Practical Medicine 2025;41(14):2258-2263
Objective To investigate the changes of diameter of the main trunk of the extracranial segment of the facial nerve,local hemodynamics and facial muscle thickness in patients with peripheral facial palsy(PFP)at acute stage by high frequency ultrasound(HFUS).Methods Sixty patients with acute PFP were enrolled as the PFP group,and 30 healthy people were selected as the control group.The following facial param-eters were scanned and recorded using HFUS:diameter of the main trunk of the extracranial segment of the facial nerve(FN-d),facial artery diameter(FA-d),facial artery systolic velocity(FA-Vs),facial artery diastolic velocity(FA-Vd),facial artery resistance index(FA-RI),frontalis muscle thickness(FM-t),depressor anguli oris muscle thickness(DAO-t),and depressor labii inferioris muscle thickness(DLI-t).The feasibility of facial param-eters in the diagnosis of acute-phase peripheral facial palsy(PFP)was evaluated,with intra-group and inter-group variability comparisons performed.Pearson correlation analysis was conducted to evaluate the relationship between acute-phase facial parameters and House-Brackmann(H-B)scale scores in PFP patients.Results(1)The H-B score of the PFP group was significantly lower than that of the control group,and the difference was statistically significant(P<0.05).(2)The reliability of repeated measurements of facial parameters by different testers is good(ICC>0.75).(3)The FN-d and FA-RI values on the affected side of PFP group were higher than those on the healthy side and control group,and FA-Vs,FA-Vd,DAO-t and DLI-t values were lower than those on the healthy side and control group,with statistical significance(P<0.05).(4)The FN-d and FA-RI values of the affected side in the PFP group were negatively correlated with the H-S scale score(r=-0.847,P<0.05;r=-0.863,P<0.05);FA Vs,FA Vd,DAO-t,DLI-t are positively correlated with H-S scale scores(r=0.808,P<0.05;r=0.757,P<0.05;r=0.836,P<0.05;r=0.694,P<0.05).Conclusions HFUS can effectively detect the characteristic changes such as the increase in the diameter of the extrcranial facial nerve trunk,local microcircula-tion disturbance and facial muscle atrophy in patients with PFP in the acute stage,and the increase and decrease of FN-d,FA Vs,FA Vd,FA-RI,DAO-t,and DLI-t can accurately reflect the improvement or progress of PFP,which has important guiding significance for clinical disease monitoring and efficacy evaluation.
5.Investigation and Analysis on the Current Situation of Financial Management in Public Hospitals of Anhui Province
Zeyun ZHANG ; Wanli MA ; Xinyu LI ; Fang LI ; Jie WANG ; Xinyu ZHAO ; Ping YU ; Liqing CAO
Chinese Health Economics 2025;44(7):98-102
Objective:To understand the current status of financial management in public hospitals of Anhui Province and provide a basis for strengthening financial management and promoting high-quality development in public hospitals.Methods:Stratified and random sampling methods were used to select 100 public hospitals as sample hospitals.A self-designed questionnaire was used to conduct a questionnaire survey on the current status of financial management.Results:The overall financial management level of public hospitals in Anhui Province needs to be further improved.The main problems are that the functions of the chief accountant need to be fully exerted,the structure of financial personnel is uneven,the coverage and depth of budget management are insufficient,cost accounting is relatively rough,the operation management system is not sound,the construction of internal control emphasizes form over substance,and the informatization construction needs to be advanced urgently.Conclusion:In response to the existing problems,efforts can be made from fully exerting the functions of the chief accountant,optimizing the talent team,promoting the refinement of budget and cost management,deeply carrying out operation management,improving internal control,and making up for the shortcomings of informatization,to adapt to the new situation and policy requirements of the medical industry's development.
6.Design of customized Gyroid condylar prosthesis and finite element analysis of articular disc
Tingting JIANG ; Danyu LIU ; Zhixiu JIANG ; Yuchen JI ; Yilin CAO ; Yucheng SU ; Xinyu WANG
Chinese Journal of Tissue Engineering Research 2025;29(28):6003-6011
BACKGROUND:Condylar prosthesis replacement,as one of the surgical methods for the treatment of temporomandibular joint diseases,not only needs to restore the morphology and function,but also needs to ensure long-term stable application.OBJECTIVE:To design finite element analysis of a customized Gyroid condylar prosthesis.METHODS:Gyroid structure specimens with different wall thicknesses(250,350,450,550,650,and 750 μm)were designed by software.Finite element simulation compression experiments were carried out to test the elastic modulus of the specimens.The Gyroid structure wall thickness range that matches the elastic modulus of mandibular cancellous bone and whose pore size meets the osteogenesis conditions was screened out.This range was subdivided and Gyroid structure specimens were made using 3D printing technology.Mechanical compression experiments were carried out on a universal testing machine.The Gyroid structure wall thickness that meets the mechanical properties of mandibular bone,has an easier osteogenesis and a smaller strength was screened out by elastic modulus and compressive strength,and subsequent experiments were carried out.A three-dimensional model of a customized Gyroid condylar prosthesis was designed,and the finite element analysis of the blade jaw position and cusp interdigitation position of the model under natural occlusion was simulated.RESULTS AND CONCLUSION:(1)Finite element analysis results showed that with the increase of wall thickness,the elastic modulus of Gyroid structure specimens increased.The elastic modulus of Gyroid structure specimens with wall thickness of 350,450,550,650,and 750 μm matched the elastic modulus of mandibular cancellous bone.Since the subsequent experiments needed to be subdivided into groups and the pore size of the 550,650,and 750 μm wall thickness group(pore size 800-1 000 μm)was within the osteogenesis range.Gyroid structure specimens with wall thickness of 550,600,650,700,and 750μm were selected for mechanical compression experiments on a universal testing machine.(2)The results of mechanical compression experiments showed that with the increase of wall thickness,the elastic modulus and compressive strength of Gyroid structure specimens increased.The elastic modulus of Gyroid structure specimens with wall thickness of 550,600,and 650 μm was within the elastic modulus of the mandibular cancellous bone.Finally,the wall thickness of 650 μm and the pore size of 900 μm were selected to construct the three-dimensional model of the mandibular customized Gyroid condylar prosthesis.(3)The results of finite element analysis of three-dimensional model of the mandibular customized Gyroid condylar prosthesis showed that the stress of the articular disc in the edge-to-edge occlusion was mainly concentrated on the lower surface of the anterior middle band,and the stress of the articular disc in the interposition of tooth tips was mainly concentrated on the lateral surface of the lower surface.The maximum displacement and the maximum equivalent stress of the left and right articular discs in the edge-to-edge occlusion and the interposition of tooth tips were similar.The maximum displacement was 0.031,0.030,0.028,and 0.018 mm,and the maximum equivalent stress was 2.87,2.30,2.73,and 1.71 MPa,respectively.(4)The results showed that the Gyroid structure with a wall thickness of 650 μm was consistent with the mechanical properties of the mandible,which reduced the strength of the titanium alloy and reduced the damage of the articular disc caused by the customized Gyroid condylar prosthesis.
7.Construction and application of an inpatient hospital discharge preparation service management platform
Ying LI ; Wenxin SUN ; Furong SUN ; Xinyu YAO ; Qiuning CAO ; Haochen LIU ; Xiujie SUN
Chinese Journal of Nursing 2025;60(16):2002-2008
Objective To build an inpatient hospital discharge preparation service management platform,to explore its application outcomes,and to enhance the quality of discharge preparation service management.Methods A research team was set up,and the literature was referenced.The platform was built on the basis of connecting and optimizing various existing information systems in the hospital,including 6 modules:evaluation,implementation of nursing,referral,monitoring feedback,follow-up,and continued nursing.Patients admitted to a tertiary comprehensive hospital were conveniently selected as research subjects in Shandong Province from August 2023 to January 2024.The 97 patients included after the platform application(November 2023 to January 2024)were selected as an experimental group,and the 97 patients included before the platform application(August to October 2023)were selected as a control group.The rate of unplanned readmission within 30 days,the utilization rate of"Internet+Nursing Services",and the time for assessing the demand for discharge planning service were compared between the 2 groups.In addition,in February 2024,300 healthcare professionals from the same hospital were selected to evaluate their satisfaction with the use of the platform.Results There were 7 cases dropping out in each of the 2 groups.The rate of unplanned readmission within 30 days in the experimental group was lower than that in the control group;the utilization rate of"Internet+Nursing Services"was higher than that in the control group;the time for assessing the demand for discharge planning service was less than that in the control group,with statistically significant differences(P<0.05).In the satisfaction survey of medical staff on the use of the platform,the effective questionnaire response rate was 94.67%,and the score of the clinical nursing information system effectiveness evaluation scale was(100.84±16.48)points.Conclusion The use of this platform can reduce the unplanned readmission rate of patients within 30 days,promote the development of"Internet+Nursing Services",reduce the time for assessing the needs of discharge planning services,and medical staff are highly satisfied with the use of the platform.
8.Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures (version 2025)
Yong YANG ; Xiaoguang ZHOU ; Qixin CHEN ; Jian CHEN ; Jian DONG ; Liangjie DU ; Shunwu FAN ; Jin FAN ; Zhong FANG ; Haoyu FENG ; Shiqing FENG ; Haishan GUAN ; Aiguo GAO ; Yanzheng GAO ; Yong HAI ; Da HE ; Dengwei HE ; Haiyi HE ; Dianming JIANG ; Xuewen KANG ; Bin LIN ; Baoge LIU ; Changqing LI ; Fang LI ; Li LI ; Fangcai LI ; Weishi LI ; Xiaoguang LIU ; Hongjian LIU ; Xinyu LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Xuhua LU ; Fei LUO ; Yuhai MA ; Keya MAO ; Xuexiao MA ; Bin MENG ; Xu NING ; Limin RONG ; Hongxun SANG ; Jun SHU ; Tiansheng SUN ; Dasheng TIAN ; Zheng WANG ; Bing WANG ; Linfeng WANG ; Qingde WANG ; Qinghe WANG ; Lan WEI ; Jigong WU ; Baoshan XU ; Youjia XU ; Guoyong YIN ; Jinglong YAN ; Feng YAN ; Cao YANG ; Huilin YANG ; Qiang YANG ; Bin ZHAO ; Jie ZHAO ; Yue ZHU ; Jianguo ZHANG ; Wenzhi ZHANG ; Zhongmin ZHANG ; Zhaomin ZHENG ; Yan ZENG ; Baorong HE ; Wei MEI
Chinese Journal of Trauma 2025;41(7):613-626
Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.
9.Clinical guideline for diagnosis and treatment of nonunion of osteoporotic vertebral fractures (version 2025)
Haipeng SI ; Le LI ; Junjie NIU ; Wencan ZHANG ; Fuxin WEI ; Jinqiu YUAN ; Qiang YANG ; Hongli WANG ; Guangchao WANG ; Shihong CHEN ; Yunzhen CHEN ; Xiaoguang CHENG ; Jianwen DONG ; Shiqing FENG ; Rui GU ; Yong HAI ; Tianyong HOU ; Bo HUANG ; Xiaobing JIANG ; Lei ZANG ; Chunhai LI ; Nianhu LI ; Hua LIN ; Hongjian LIU ; Peng LIU ; Xinyu LIU ; Sheng LU ; Shibao LU ; Chunshan LUO ; Lvy CHAOLIANG ; Lvy WEIJIA ; Xuexiao MA ; Wei MEI ; Chunyang MENG ; Cailiang SHEN ; Chunli SONG ; Ruoxian SONG ; Jiacan SU ; Honglin TENG ; Hui SHENG ; Beiyu WANG ; Bingwu WANG ; Liang WANG ; Xiangyang WANG ; Nan WU ; Guohua XU ; Yayi XIA ; Jin XU ; Youjia XU ; Jianzhong XU ; Cao YANG ; Maowei YANG ; Zibin YANG ; Xiaojian YE ; Hailong YU ; Xijie YU ; Hua YUE ; Zhili ZENG ; Xinli ZHAN ; Hui ZHANG ; Peixun ZHANG ; Wei ZHANG ; Zhenlin ZHANG ; Jianguo ZHANG ; Tengyue ZHU ; Qiang LIU ; Huilin YANG
Chinese Journal of Trauma 2025;41(10):932-945
Nonunion of osteoporotic vertebral fractures (OVF), predominantly affecting the elderly, can lead to intractable pain, vertebral collapse, progressive kyphotic deformity, and neurological impairment, significantly compromising patients′ quality of life. There exists considerable debate on diagnosis and management of OVF, encompassing key issues such as clinical diagnosis and staging criteria for nonunion, surgical indications and procedure selection, and postoperative rehabilitation planning. Currently, there lacks standardized clinical guideline and expert consensus on the diagnosis and management of OVF nonunion in China. To address this gap, Minimally Invasive Surgery Group of Chinese Orthopedic Association, Osteoporosis Committee of Chinese Association of Orthopedic Surgeons, Prevention and Rehabilitation Committee for Osteoporosis of Chinese Association of Rehabilitation Medicine and Minimally Invasive Orthopedic Surgery Branch of China Association for Geriatric Care jointly organized domestic experts in spinal surgery, endocrinology, and rehabilitation to formulate the Clinical guideline for the diagnosis and treatment for nonunion of osteoporotic vertebral fractures ( version 2025), based on existing literature and clinical experience and adhering to principles of scientific rigor and practicality. The guideline provided 13 evidence-based recommendations encompassing diagnosis and treatment of OVF nonunion, aiming to standardize its clinical management.
10.SAE1 promotes tumor cell malignancy via SUMOylation and liquid-liquid phase separation facilitated nuclear export of p27.
Ling WANG ; Jie MIN ; Jinjun QIAN ; Xiaofang HUANG ; Xichao YU ; Yuhao CAO ; Shanliang SUN ; Mengying KE ; Xinyu LV ; Wenfeng SU ; Mengjie GUO ; Nianguang LI ; Shiqian QI ; Hongming HUANG ; Chunyan GU ; Ye YANG
Acta Pharmaceutica Sinica B 2025;15(4):1991-2007
Most cancers are currently incurable, partly due to abnormal post-translational modifications (PTMs). In this study, we initially used multiple myeloma (MM) as a working model and found that SUMOylation activating enzyme subunit 1 (SAE1) promotes the malignancy of MM. Through proteome microarray analysis, SAE1 was identified as a potential target for bioactive colcemid or its derivative colchicine. Elevated levels of SAE1 were associated with poor clinical survival and increased MM proliferation in vitro and in vivo. Additionally, SAE1 directly SUMOylated and upregulated the total protein expression of p27, leading to LLPS-mediated nuclear export of p27. Our study also demonstrated the involvement of SAE1 in other types of cancer cells, and provided the first monomer crystal structure of SAE1 and its key binding model with colchicine. Colchicine also showed promising results in the Patient-Derived Tumor Xenograft (PDX) model. Furthermore, a controlled clinical trial with 56 MM patients demonstrated the clinical efficacy of colchicine. Our findings reveal a novel mechanism by which tumor cells evade p27-induced cellular growth arrest through p27 SUMOylation-mediated nuclear export. SAE1 may serve as a promising therapeutic target, and colchicine may be a potential treatment option for multiple types of cancer in clinical settings.

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