资源描述：
《Detection of EGFR- and HER2-activating mutations in squamous cell》由会员上传分享，免费在线阅读，更多相关内容在行业资料-天天文库。
1、ModernPathology(2006)19,634–640&2006USCAP,IncAllrightsreserved0893-3952/06$30.00www.modernpathology.orgDetectionofEGFR-andHER2-activatingmutationsinsquamouscellcarcinomainvolvingtheheadandneckCarlynnWillmore-Payne,JosephAHoldenandLesterJLayfieldDepartm
2、entofPathology,UniversityofUtahHealthSciencesCenter,SaltLakeCity,UT,USARecentreportshaveindicatedthatmutationsintheepidermalgrowthfactorreceptor-1(EGFR)occurinabout7%ofpatientswithsquamouscellcarcinomaoftheheadandneck.Itisknownthatmanypatientswithnon-s
3、mall-celllungcancerwhorespondtotheEGFRinhibitorsgefitinibanderlotinibhavetumorswithEGFR-activatingmutations.Thismightsuggestthatpatientswithheadandnecksquamouscarcinoma,whoalsohavetumorswithEGFR-activatingmutations,mightrepresentapatientpopulationwhoco
4、uldbenefitfromgefitiniborerlotinibtherapy.High-resolutionmeltingampliconanalysis(HRMAA)isarecentlydescribedtechniquewhichcanbeusedforscreeningtumorDNAisolatedfromparaffinblocksfortyrosinekinase-activatingmutations.Inthisreportwescreened24casesofsquamou
5、scellcarcinoma,eitherprimaryintheheadandneckorsecondarilyinvolvingtheheadandneckarea,foractivatingmutationsinEGFRexons18,19,20,21,andforHER2exons19and20.AllcaseswerefollowedupbydirectDNAsequencing.Two(8%)ofthe24caseswerepositive.Onecasewasamaxillarysin
6、ustumorwhichcontainedanexon20-activatingmutation(N771YinsG).Surprisingly,theothercasewasaprimarysquamouscellcarcinomaoftheskinwhichinvadedtheheadandneckareaonlysecondarily.Thistumorcontainedanexon19-activatingmutation(G729E).NoHER2-activatingmutationsw
7、erefound.ThepresenceofasmallnumberofsquamouscellcarcinomasintheheadandneckareawithEGFR-activatingmutationssuggeststheexistenceofapopulationofpatientswhocouldderivebenefitfromgefitiniborerlotinibtherapy.HRMAAcouldserveasascreeningmethodtoeasilyandrapidl
8、yidentifythesepatients.ModernPathology(2006)19,634–640.doi:10.1038/modpathol.3800552;publishedonline17March2006Keywords:headandnecksquamouscellcarcinoma;EGFR-activatingmutations;HER2-activatingmutations;EGFRimmunohistochemicalstaining6O
