Sarcomas in hereditary retinoblastoma 英文参考文献.docVIP

Kleinermanetal.ClinicalSarcomaResearch2012,2:15 /content/2/1/15 CLINICAL SARCOMA RESEARCH REVIEW OpenAccess Sarcomasinhereditaryretinoblastoma RuthAKleinerman1*,SaraJSchonfeld1andMargaretATucker1,2 Abstract Childrendiagnosedwiththehereditaryformofretinoblastoma(Rb),arareeyecancercausedbyagermline mutationintheRB1tumorsuppressorgene,haveexcellentsurvival,butfaceanincreasedriskofboneandsoft tissuesarcomas.Thispredispositiontosarcomashasbeenattributedtogeneticsusceptibilityduetoinactivationof theRB1geneaswellaspastradiotherapyforRb.Themajorityofboneandsofttissuesarcomasamonghereditary Rbsurvivorsoccurinthehead,withintheradiationfield,buttheyalsooccuroutsidetheradiationfield.Sarcomas accountforalmosthalfofthesecondprimarycancersinhereditaryRbsurvivors,buttheyareveryrarefollowing non-hereditaryRb.SarcomasamonghereditaryRbsurvivorsariseatagessimilartothepatternofoccurrenceinthe generalpopulation.Therehasbeenatrendoverthepasttwodecadestoreplaceradiotherapywithchemotherapy andotherfocaltherapies(laserorcryosurgery),andmostrecently,chemosurgeryinordertoreducetheincidence ofsarcomasandothersecondcancersinRbsurvivors.GiventheexcellentsurvivalofmostRbpatientstreatedin thepast,itisimportantforsurvivors,theirfamiliesandhealthcareproviderstobeawareoftheheightenedriskfor sarcomasinhereditarypatients. Keywords:Retinoblastoma,Softtissuesarcoma,Bonesarcoma,Radiotherapy,Epidemiology,RB1gene,Hereditary Introduction maintains cell cycle arrest and preserves chromosome Children diagnosed with the hereditary form of retino- stability[2]. blastoma (Rb), a rare eye cancer caused by a germline Retinoblastomaoccursintwoforms:hereditary(30-40%) mutationintheRB1tumorsuppressorgene,haveexcel- andnon-hereditary(60-70%).Hereditaryretinoblastomais lent survival, but face anincreasedrisk forthedevelop- caused by a germline mutation in one allele of the RB1 mentofsarcomas,bothsofttissue(STS)andbone.This geneandanacquiredsomaticmutationintheotherallele,