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Pan-TRK positive uterine sarcoma in immunohistochemistry without neurotrophic tyrosine receptor kinase gene fusions:A case report

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World Journal of Clinical Cases 2025年第2期13卷 39-49页

作者： Seungmee Lee Yu-Ra Jeon Changmin Shin Sun-Young Kwon Sojin Shin Department of Obstetrics and Gynecology Keimyung University School of MedicineDaegu 42601South Korea Department of Pathology and institute for Cancer Research Keimyung University School of MedicineDaegu 42601South Korea

BACKGROUND The classification of uterine sarcomas is based on distinctive morphological and immunophenotypic characteristics,increasingly supported by molecular genetic *** on neurotrophic tyrosine receptor kinase(NTRK)gene fusionpositive uterine sarcoma,potentially aggressive and morphologically similar to fibrosarcoma,are limited due to its recent ***-TRK immunohistochemistry(IHC)analysis serves as an effective screening tool with high sensitivity and specificity for NTRK-fusion *** SUMMARY We report a case of a malignant mesenchymal tumor originating from the uterine cervix,which was pan-TRK IHC-positive but lacked NTRK gene fusions,accompanied by a brief literature review.A 55-year-old woman presented to the emergency department with abdominal pain and distension,exhibiting significant ascites and multiple solid pelvic *** examination revealed a tumor encompassing the uterine cervix,extending to the vagina and uterine corpus.A punch biopsy of the cervix indicated NTRK sarcoma with positive immunochemical pan-TRK ***,subsequent next generation sequencing revealed no NTRK gene fusion,leading to a diagnosis of poorly differentiated,advanced-stage *** The clinical significance of NTRK gene fusion lies in potential treatment with TRK inhibitors for positive *** such rare tumors is crucial due to the potential applicability of tropomyosin receptor kinase inhibitor treatment.

关键词： Uterine sarcoma Cervical sarcoma Neurotrophic tyrosine receptor kinase gene fusion Next generation sequencing Case report

Spastin and alsin protein interactome analyses begin to reveal key canonical pathways and suggest novel druggable targets

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Neural Regeneration Research 2025年第3期20卷 725-739页

作者： Benjamin R.Helmold Angela Ahrens Zachary Fitzgerald P.Hande Ozdinler Department of Neurology Feinberg School of MedicineNorthwestern UniversityChicagoILUSA Center for Molecular Innovation and Drug Discovery Center for Developmental TherapeuticsChemistry of Life Processes InstituteNorthwestern UniversityEvanstonILUSA Mesulam Center for Cognitive Neurology and Alzheimer’s Disease Feinberg School of MedicineNorthwestern UniversityChicagoILUSA Feinberg School of medicine Les Turner ALS Center at Northwestern UniversityChicagoILUSA

Developing effective and long-term treatment strategies for rare and complex neurodegenerative diseases is challenging. One of the major roadblocks is the extensive heterogeneity among patients. This hinders understanding the underlying disease-causing mechanisms and building solutions that have implications for a broad spectrum of patients. One potential solution is to develop personalized medicine approaches based on strategies that target the most prevalent cellular events that are perturbed in patients. Especially in patients with a known genetic mutation, it may be possible to understand how these mutations contribute to problems that lead to neurodegeneration. Protein–protein interaction analyses offer great advantages for revealing how proteins interact, which cellular events are primarily involved in these interactions, and how they become affected when key genes are mutated in patients. This line of investigation also suggests novel druggable targets for patients with different mutations. Here, we focus on alsin and spastin, two proteins that are identified as “causative” for amyotrophic lateral sclerosis and hereditary spastic paraplegia, respectively, when mutated. Our review analyzes the protein interactome for alsin and spastin, the canonical pathways that are primarily important for each protein domain, as well as compounds that are either Food and Drug Administration–approved or are in active clinical trials concerning the affected cellular pathways. This line of research begins to pave the way for personalized medicine approaches that are desperately needed for rare neurodegenerative diseases that are complex and heterogeneous.

关键词： ALS2 alsin amyotrophic lateral sclerosis hereditary spastic paraplegia neurodegenerative diseases personalized medicine precision medicine protein interactome protein-protein interactions SPAST spastin

Umbilical cord:an unlimited source of cells differentiable towards dopaminergic neurons

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Neural Regeneration Research 2017年第7期12卷 1186-1192页

作者： Mahdi Eskandarian Boroujeni Mossa Gardaneh Department of Stem Cells and Regenerative medicine Faculty of Medical Biotechnology National Institute of Genetic Engineering and Biotechnology Tehran Iran

Cell replacement therapy utilizing mesenchymal stem cells as its main resource holds great promise for ultimate treatment of human neurological ***＇s disease（PD）is a common,chronic neurodegenerative disorder hallmarked by localized degeneration of a specific set of dopaminergic neurons within a midbrain *** specific cell type and confined location of degenerating neurons make cell replacement therapy ideal for PD treatment since it mainly requires replenishment of lost dopaminergic neurons with fresh and functional *** as well as exogenous cell sources have been identified as candidate targets for cell replacement therapy in *** this review,umbilical cord mesenchymal stem cells（UCMSCs）are discussed as they provide an inexpensive unlimited reservoir differentiable towards functional dopaminergic neurons that potentially lead to long-lasting behavioral recovery in PD *** also present mi RNAs-mediated neuronal differentiation of *** UCMSCs bear a number of outstanding characteristics including their non-tumorigenic,low-immunogenic properties that make them ideal for cell replacement therapy ***,more investigations as well as controlled clinical trials are required to thoroughly confirm the efficacy of UCMSCs for therapeutic medical-grade applications in PD.

关键词： nerve regeneration umbilical cord mesenchymal stem cells differentiation neuronal dopaminergicneurons dopamine substantia nigra ventral mesencephalon Parkinson's disease cell replacement therapy neural regeneration

Current Situations of Competitive Scientific Research Projects for Agri-scientific Research Institutions: A Case Study of Tropical Crops genetic Resources institute of Chinese Academy of Tropical Agricultural Sciences

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Asian Agricultural Research 2015年第10期7卷 77-82页

作者： Haiyan LUO Qingqun YAO Lizhen CHEN Yu ZHENG Tropical Crops genetic Resources institute of Chinese Academy of Tropical Agricultural Sciences

This paper collected and arranged competitive scientific research projects undertaken by Tropical Crops genetic Resources institute of Chinese Academy of Tropical Agricultural Sciences in 2003-2014. Through statistical analysis on quantity of projects,funded amount,age of person responsible,professional title of person responsible,academic degree of person responsible,research object,it discussed relevant characteristics and rules. Finally,it came up with pertinent measures and recommendations,in the hope of providing services for decision-making and scientific and technological management.

关键词： Competitive scientific research projects Current s

Inhibition of the NLRP3 inflammasome attenuates spiral ganglion neuron degeneration in aminoglycoside-induced hearing loss

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Neural Regeneration Research 2025年第10期20卷 3025-3039页

作者： Jia Fang Zhuangzhuang Li Pengjun Wang Xiaoxu Zhang Song Mao Yini Li Dongzhen Yu Xiaoyan Li Yazhi Xing Haibo Shi Shankai Yin Department of Otolaryngology Head and Neck Surgery Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of MedicineOtolaryngology Institute of Shanghai Jiao Tong UniversityShanghai Key Laboratory of Sleep Disordered BreathingShanghaiChina Department of Otorhinolaryngology-Head and Neck Surgery Shanghai Children’s HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Aminoglycosides are a widely used class of antibacterials renowned for their effectiveness and broad antimicrobial ***,their use leads to irreversible hearing damage by causing apoptosis of hair cells as their direct *** addition,the hearing damage caused by aminoglycosides involves damage of spiral ganglion neurons upon *** investigate the mechanisms underlying spiral ganglion neuron degeneration induced by aminoglycosides,we used a C57BL/6J mouse model treated with *** found that the mice exhibited auditory deficits following the acute loss of outer hair *** ganglion neurons displayed hallmarks of pyroptosis and exhibited progressive degeneration over *** profiling of these neurons showed significant upregulation of genes associated with inflammation and immune response,particularly those related to the NLRP3 *** of the canonical pyroptotic pathway in spiral ganglion neurons was observed,accompanied by infiltration of macrophages and the release of proinflammatory *** intervention targeting NLRP3 using Mcc950 and genetic intervention using NLRP3 knockout ameliorated spiral ganglion neuron degeneration in the injury *** findings suggest that NLRP3 inflammasome-mediated pyroptosis plays a role in aminoglycoside-induced spiral ganglion neuron *** of this pathway may offer a potential therapeutic strategy for treating sensorineural hearing loss by reducing spiral ganglion neuron degeneration.

关键词： degeneration hearing loss macrophages Mcc950 neuroinflammation NLRP3 inflammasome ototoxicity pyroptosis sensorineural hearing loss spiral ganglion neuron

Construction and Establishment of Sci-tech Platform for Agricultural Scientific Research Institutions: A Case Study of Tropical Crops genetic Resources institute of Chinese Academy of Tropical Agricultural Sciences

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Asian Agricultural Research 2014年第11期6卷 83-86页

作者： Lizhen CHEN Yu ZHENG Haiyan LUO Qingqun YAO Tropical Crops genetic Resources institute of Chinese Academy of Tropical Agricultural Sciences

Taking Tropical Crops genetic Resources institute( TCGRI) of Chinese Academy of Tropical Agricultural Sciences( CATAS) as an example,this paper discussed current situation of construction of sci-tech platform,analyzed... 详细信息

关键词： Sci-tech platform Current situation Existing probl

Importance of etiologies of secondary diabetes:How often do we think off in clinical practice?

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World Journal of Clinical Cases 2025年第5期13卷 49-51页

作者： Kotha Sugunakar Reddy Arvind Kumar Morya Archana Gaur Sakthivadivel Varatharajan Department of General medicine All India Institute of Medical SciencesHyderabad 508126TelanganaIndia Department of Ophthalmology All India Institute of Medical SciencesHyderabad 508126TelanganaIndia Department of Physiology All India Institute of Medical SciencesHyderabad 508126TelanganaIndia

The article"Secondary diabetes due to different etiologies:Four case reports"by Song et al,published in the World Journal of Clinical Cases,delves into the identi-fication of rare causes of secondary diabetes and emphasizes the necessity for healthcare professionals to recognize these *** to do so can result in treatment delays and compromised patient *** article discusses spe-cific types of diabetes,including maturity onset of diabetes in young,pancreas-related diseases,endocrinopathies,drug-induced diabetes,infections,and con-genital genetic syndromes associated with diabetes *** summaries highlight how patients with secondary diabetes,stemming from conditions such as Williams-Beuren syndrome and pituitary adenoma,often exhibit distinct characteristics overlooked in clinical *** authors stress the importance of a holistic diagnostic approach and advocate for proactive management through early intervention,including genetic tests and antibody *** awa-reness and education are crucial for timely identification and proper management,ultimately improving patient *** findings prompt a call to action for healthcare professionals to consider rare causes of secondary diabetes,facili-tating better glycemic control and overall patient care.

关键词： Diabetes mellitus Etiologies Viral infections Syndromes Pathophysiology,Secondary diabetes mellitus,Clinical practice

A NEW HUMAN INTERFERON-γ MUTANT HARBORING EGF RECEPTOR-INTERFERING SEQUENCE POSSESSES HIGH ANTIPROLIFERATIVE ACTIVITY

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Science China Chemistry 1992年第1期35卷 84-91页

作者：王晓鸣李玉英金奇张智清侯云德 National Laboratory of Molecular Virology and genetic Engineering Institute of Virology Chinese Academy of Preventive Medicine Beijing 100052 PRC

An interferon gamma (IFN-γ) mutant gene harboring an additionamal epidermal growth factor (EGF) sequence at its 3’ terminal was constructed and highly expressed in E. coli by using pBV220 as a vector. The new fusion protein-lFN-γ-EGF possesses not only high antiviral activity, but also high antiproliferative effect as demonstrated by ~3H-TdR incorporation method using CN Ⅱ ceils which are rich in EGF receptors.

关键词： interferon gamma epidermal growth factor protein engineering.

A novel and highly efficient production system for recombinant adeno-associated virus vector

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Science China(Life Sciences) 2002年第1期45卷 96-104页

作者：伍志坚吴小兵曹晖董小岩王宏侯云德 1. State Key Laboratory for Molecular Virology and genetic Engineering Institute of Virology Chinese Academy of Preventive Medicine 100052 Beijing China

Recombinant adeno-associated virus(rAAV) has proven to be a promising gene delivery vector for human gene therapy. However, its application has been limited by difficulty in obtaining enough quantities of high-titer vector stocks. In this paper, a novel and highly efficient production system for rAAV is described. A recombinant herpes simplex virus type 1(rHSV-1) designated HSV1-rc/△UL2, which expressed adeno-associated virus type2(AAV-2) Rep and Cap proteins, was constructed previously. The data confirmed that its functions were to support rAAV replication and packaging, and the generated rAAV was infectious. Meanwhile, an rAAV proviral cell line designated BHK/SG2, which carried the green fluorescent protein(GFP) gene expression cassette, was established by transfecting BHK-21 cells with rAAV vector plasmid pSNAV-2-GFP. Infecting BHK/SG2 with HSV1-rc/△UL2 at an MOI of 0.1 resulted in the optimal yields of rAAV, reaching 250 transducing unit(TU) or 4.28×104 particles per cell. Therefore, compared with the conventional transfection method, the yield of rAAV using this "one proviral cell line, one helper virus" strategy was increased by two orders of magnitude. Large-scale production of rAAV can be easily achieved using this strategy and might meet the demands for clinical trials of rAAV-mediated gene therapy.

关键词： recombinant adeno-associated virus(rAAV), recombinant herpes simplex virus type 1(rHSV-1), vector, gene therapy, production system, green fluorescent protein(GFP).