Germline predisposition to soft tissue sarcoma  

作　　者：Jennie Vagher Matthew S.Dietz Joshua D.Schiffman Wendy Kohlmann Luke Maese 

机构地区：[1]Department of Population Sciences,Huntsman Cancer Institute,University of Utah,Salt Lake City,UT 84112,USA [2]Division of Hematology/Oncology,Primary Children’s Hospital,University of Utah,Salt Lake City,UT 84112,USA [3]Peel Therapeutics,Inc.,Altitude Lab,Salt Lake City,UT 84108,USA

出　　处：《Journal of Cancer Metastasis and Treatment》2022年第1期265-280,共16页癌症转移与治疗（英文版）

基　　金：This manuscript utilized the Genetic Counseling Shared Resource at Huntsman Cancer Institute at the University of Utah and was supported by the National Cancer Institute of the National Institutes of Health under Award Number P30CA042014;JDS holds the Helen Clise Presidential Endowed Chair in Li Fraumeni Syndrome Research(University of Utah)and is the Co-Founder/CEO of Peel Therapeutics,Inc.

摘　　要：Soft tissue sarcoma(STS)most often occurs sporadically,but can also arise in the setting of a germline cancer predisposition syndrome(CPS).There is significant diversity amongst STS diagnoses as these tumors exhibit a variety of histologies,occur in all age groups,and can occur in any location in the body.This diversity is also reflected in the many known associated germline cancer predisposition associations.Some STS diagnoses,such as anaplastic rhabdomyosarcoma,are associated with high heritability and other STS,such as Ewing sarcoma,are notably absent from known CPS.Recognizing when a STS is more likely to be hereditary can influence clinical management.Individuals diagnosed with STS due to CPS may be at risk for other malignancies and should undergo additional surveillance for early detection.Additionally,family members should undergo genetic testing as they also may be at risk to develop STS and other CPS-associated malignancies.Some underlying cancer predisposition diagnoses may have implications for the treatment of a concurrent malignancy as in the case of PARP inhibitor therapy in the setting of homologous recombination deficiency.This review summarizes current knowledge of selected STS and their associations with CPS.

关 键 词：GENETIC soft tissue sarcoma Li-Fraumeni syndrome cancer predisposition syndrome 

分 类 号：R738.6[医药卫生—肿瘤]