Genetic predisposition in sarcomas: clinical implications and management
Elizabeth A. Connolly, Kjetil Boye, Sylvie Bonvalot, Christian P. Kratz, Andreas Leithner, David Malkin, Christina Messiou, Aisha Miah, Pan Pantziarka, Beate Timmermann, Winette T.A. van der Graaf, David M. Thomas, Silvia Stacchiotti
Abstract
Recent studies indicate up to 20% of sarcomas may be associated with predisposition genes, and this number will probably increase as genetic testing becomes more available. Evidence on the management of patients with sarcoma and genetic predisposition remains, however, scarce. This review compiles available research on genetic predisposition syndromes associated with sarcoma and sarcoma treatment within such syndromes, addressing key gaps in knowledge. We explore the current evidence on how genetic predisposition may influence treatment decisions and clinical management, focusing on surgery, radiotherapy, systemic treatment, and surveillance. Evidence-based recommendations are currently not available for most syndromes, and we have therefore included pragmatic advice for clinicians. Unanswered questions and unmet needs are also identified, underscoring the importance of multidisciplinary input from specialists such as geneticists, radiologists, surgeons and oncologists. The review stresses the need for future research to improve clinical outcomes for patients with sarcoma and genetic predisposition. Funding: No funding has been provided for this work.