典型文献
Familial uterine leiomyoma-associated germline oncogenic mutant VEGFR1 is sensitive to mTOR inhibitor
文献摘要:
With an overall prevalence of about 70%in women at reproduc-tive age,uterine leiomyomas(ULs)are the most prevalent benign tumors in the female reproductive tract[1].Due to high lesion recurrence,the current treatment of multiple leiomyomas for fer-tility or uterine preservation is a daunting task and only provides partial or temporary relief[2].The tumor size,tumor location,and clinical manifestations of ULs are highly variable,strongly sug-gesting complex genetic predisposition factors and molecular mechanisms[2,3].A limited number of reports on familial cluster-ing revealed more severe clinical symptoms and distinct molecular features[4].The definitive molecular pathogenesis of ULs is still largely unknown.In this study,we identified a germline heterozy-gous missense mutation in Fms related tyrosine kinase 1(FLT1)gene encoding vascular endothelial growth factor receptor 1(VEGFR1)in family members with uterine leiomyomas,and char-acterized the significance of this mutation and treated patient accordingly(ethics approval No.JS-1525).
文献关键词:
中图分类号:
作者姓名:
Yuxin Dai;Xinyu Zhang;Jiarui Lv;Fengzhi Feng;Xirun Wan;Fuqiang Huang;Hongbing Zhang;Lan Zhu
作者机构:
Department of Obstetrics and Gynecology,State Key Laboratory of Complex,Severe and Rare Diseases,National Clinical Research Center for Obstetric&Gynecologic Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China;State Key Laboratory of Medical Molecular Biology,Department of Physiology,Institute of Basic Medical Sciences and School of Basic Medicine,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005,China;Department of Physiology,School of Life Science,China Medical University,Shenyang 110122,China
文献出处:
引用格式:
[1]Yuxin Dai;Xinyu Zhang;Jiarui Lv;Fengzhi Feng;Xirun Wan;Fuqiang Huang;Hongbing Zhang;Lan Zhu-.Familial uterine leiomyoma-associated germline oncogenic mutant VEGFR1 is sensitive to mTOR inhibitor)[J].科学通报(英文版),2022(06):585-587
A类:
ULs,heterozy,FLT1
B类:
Familial,uterine,associated,germline,oncogenic,mutant,VEGFR1,sensitive,mTOR,inhibitor,With,overall,prevalence,about,women,age,leiomyomas,are,most,prevalent,benign,tumors,female,reproductive,tract,Due,lesion,recurrence,current,treatment,multiple,fer,tility,preservation,daunting,task,only,provides,partial,temporary,relief,size,location,clinical,manifestations,highly,variable,strongly,sug,gesting,complex,genetic,predisposition,factors,molecular,mechanisms,limited,number,reports,familial,cluster,revealed,more,severe,symptoms,distinct,features,definitive,pathogenesis,still,largely,unknown,In,this,study,we,identified,gous,missense,mutation,Fms,related,tyrosine,kinase,encoding,vascular,endothelial,growth,receptor,family,members,char,acterized,significance,treated,patient,accordingly,ethics,approval,No,JS
AB值:
0.674174
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