SEOM临床指南：遗传性TP53相关癌症综合征(2022)

Clinical and Translational Oncologyhttp5/doi.org/10.1007/s12094-023-03202-9CLINICAL GUIDES IN ONCOLOGYSEOM clinical guideline on heritable TP53-related cancer syndrome(2022)Ana Beatriz Sanchez-Heras'.Teresa Ramon y Cajal2.Marta Pineda34.Elena Aguirre5.Begona Grana5.Isabel Chirivella7.Judit Balmana.Joan Brunet34,910 on behalf of the SEOM Hereditary Cancer WorkingGroup and AEGH Hereditary Cancer CommitteeReceived:11 April 2023/Accepted:11 April 2023©The Author(s)2023AbstractLi-Fraumeni syndrome is caused by heterozygous germline pathogenic variants in the TP53 gene.It involves a high riskof a variety of malignant tumors in childhood and adulthood,the main ones being premenopausal breast cancer,soft tissuesarcomas and osteosarcomas,central nervous system tumors,and adrenocortical carcinomas.The variability of the associ-ated clinical manifestations,which do not always fit the classic criteria of Li-Fraumeni syndrome,has led the concept ofSLF to extend to a more overarching cancer predisposition syndrome,termed hereditable TP53-related cancer syndrome(hTP53rc).However,prospective studies are needed to assess genotype-phenotype characteristics,as well as to evaluate andvalidate risk-adjusted recommendations.This guideline aims to establish the basis for interpreting pathogenic variants in theTP53 gene and provide recommendations for effective screening and prevention of associated cancers in carrier individuals.Keywords Li-Fraumeni syndrome.TP53.Cancer.Pathogenic variants☒Joan BrunetHereditary Cancer Program,Catalan Institute of Oncology.jbrunet@iconcologia.netInstitut d'Investigaci6 Biomedica de Bellvitge (IDIBELL).ONCOBELL Program,L'Hospitalet de Llobregat,Barcelona,Ana Beatriz Sanchez-HerasSpainzrtbns @gmail.com4Consortium for Biomedical Research in Cancer.CIBERONC.Teresa Ramon y CajalCarlos III Institute of Health,Madrid,Spaintramon@santpau.cat5Marta PinedaMedical Oncology Department,Hospital Quironsalud,mpineda@iconcologia.netZaragoza,Spain6Elena AguirreMedical Oncology Department,University Hospitalelenaaguirreortega@yahoo.esA Corufa,15006 A Corufa,SpainBegofa GrafaMedical Oncology Department,INCLIVA BiomedicalResearch Institute.University of Valencia.Valencia,Spainbegona.grana.suarez@gmail.comMedical Oncology Department.Hospital Vall d'Hebron.Isabel Chirivellachirivella_isa@gva.esand Hereditary Cancer Genetics Group,Vall d'HebronInstitute of Oncology,Barcelona,SpainJudit Balmafa9jbalmana@vhio.net:cnoguera@vhio.netMedical Oncology Department,Catalan Instituteof Oncology,University Hospital Josep Trueta.UniversityMedical Oncology Department,Hospital Generalof Girona,Girona,SpainUniversitario de Elche,Elche,Alicante,Spain10 Hereditary Cancer Program,Catalan Institute of Oncology.Medical Oncology Service,Hospital Sant Pau,BarcelonaGirona Biomedical Research Instiute (IDIBGD).Girona,SpainSpainPublished online:03 May 2023②Springer