Genetic predisposition in sarcomas: clinical implications and management.

IF 9.6 1区医学 Q1 MEDICINE, GENERAL & INTERNAL

EClinicalMedicine Pub Date : 2025-04-15 eCollection Date: 2025-05-01 DOI:10.1016/j.eclinm.2025.103203

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

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引用次数: 0

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.

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肉瘤的遗传易感性：临床意义和管理。

最近的研究表明，高达20%的肉瘤可能与易感基因有关，随着基因检测的普及，这一数字可能会增加。然而，关于肉瘤患者和遗传易感性的管理证据仍然很少。本综述汇编了与肉瘤相关的遗传易感综合征和此类综合征中的肉瘤治疗的现有研究，解决了知识方面的关键空白。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，重点是手术、放疗、全身治疗和监测。目前大多数综合征还没有基于证据的建议，因此我们为临床医生提供了实用的建议。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的多学科投入的重要性。该综述强调需要进一步研究以改善肉瘤和遗传易感性患者的临床结果。经费：没有为这项工作提供经费。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

EClinicalMedicine Medicine-Medicine (all)

CiteScore

18.90

自引率

1.30%

发文量

506

审稿时长

22 days

期刊介绍： eClinicalMedicine is a gold open-access clinical journal designed to support frontline health professionals in addressing the complex and rapid health transitions affecting societies globally. The journal aims to assist practitioners in overcoming healthcare challenges across diverse communities, spanning diagnosis, treatment, prevention, and health promotion. Integrating disciplines from various specialties and life stages, it seeks to enhance health systems as fundamental institutions within societies. With a forward-thinking approach, eClinicalMedicine aims to redefine the future of healthcare.