遗传性肾癌综合征详解演示文稿.pptVIP

Clinicalfeaturesthefindingofseverelysymptomaticuterinefibroidsamongaffectedwomenwithinfamiliesoftenrequiringearlyhysterectomyduetodifficultiesfrommenometrorrhagia89%ofaffectedwomenunderwenthysterectomy44%beforetheageof30第29页，共50页。IsolatedcasesofuterineleiomyosarcomasCutaneousleiomyomasarecommonamongaffectedindividuals,thoughmaybedifficulttoidentify第30页，共50页。Renalcancerswithaprevalenceestimatedbetween2and21%papillarytype2tumorspotentiallymisclassifiedascollectingducttumorsMorerecently,detailedhistologicdescriptionhasledtomorerefinedcharacterizationofthepathologicfeaturesnowtermedHLRCCrenaltumors第31页，共50页。ManagementRadiographicappearanceofHLRCCtumorsmayappearpartlycysticandpoorlydefinedNephron-sparingsurgeryislesswellestablishedinthissettingSurgicalinterventionmustbeperformedwithcaretoensureminimalhandlingofthetumorandcompletewideresection,includinglymphnodedissectionPreoperativePETscansmayprovebeneficialincasesinwhichlymphnodeornonlocalizeddiseaseissuspected第32页，共50页。Birt–Hogg–DubesyndromeThefamilialassociationofperifolliculardermatosisinvolvingthefaceandtrunkamongthreefirst-degreerelativeswasfirstdescribedbyHornsteinandKnickenbergin1975Twoyearslater,DrsBirt,HoggandDubedescribedclinicaldermatologicfindingsinvolving15familymemberswithsimilarskinnodulesdescribedasfibrofolliculomas纤维毛囊瘤,trichodiscomas毛盘状瘤acrochordons软垂疣第33页，共50页。GeneticsautosomaldominantpatternsofinheritancechromosomeThegeneproduct,folliculin,isthoughttobeinvolvedinregulationofthemammaliantargetofrapamycin(mTOR)pathwaybyactingthroughfolliculin-interactingprotein(FNIP-1)and50-AMP-activatedproteinkinase第34页，共50页。ClinicalfeaturesClassictriadofskinfibrofolliculomaspulmonarycystsrenaltumors第35页，共50页。遗传性肾癌综合征详解演示文稿第1页，共50页。（优选）遗传性肾癌综合征第2页，共5