肉瘤的遗传易感性：临床意义与管理

Genetic predisposition in sarcomas: clinical implications and management.

作者信息

Connolly Elizabeth A, Boye Kjetil, Bonvalot Sylvie, Kratz Christian P, Leithner Andreas, Malkin David, Messiou Christina, Miah Aisha B, Pantziarka Pan, Timmermann Beate, van der Graaf Winette T A, Thomas David M, Stacchiotti Silvia

机构信息

Department of Medical Oncology, Chris O'Brien Lifehouse, Sydney, Australia.

ProCan, Children's Medical Research Institute, Faculty of Medicine and Health, University of Sydney, Westmead, NSW, Australia.

出版信息

EClinicalMedicine. 2025 Apr 15;83:103203. doi: 10.1016/j.eclinm.2025.103203. eCollection 2025 May.

DOI:10.1016/j.eclinm.2025.103203

PMID:40291347

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12032185/

Abstract

UNLABELLED

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.

摘要

未标注

近期研究表明，高达20%的肉瘤可能与易感基因相关，随着基因检测的普及，这一数字可能还会增加。然而，关于肉瘤患者及遗传易感性管理的证据仍然匮乏。本综述汇编了与肉瘤相关的遗传易感性综合征以及此类综合征内肉瘤治疗的现有研究，填补了关键的知识空白。我们探讨了遗传易感性如何影响治疗决策和临床管理的现有证据，重点关注手术、放疗、全身治疗和监测。目前大多数综合征尚无基于证据的推荐，因此我们为临床医生提供了实用建议。还确定了未解决的问题和未满足的需求，强调了遗传学家、放射科医生、外科医生和肿瘤学家等专家多学科投入的重要性。该综述强调了未来研究对于改善肉瘤及遗传易感性患者临床结局的必要性。