Tlemsani Camille, Bougeard Gaëlle, Gauthier-Villars Marion, Denizeau Philippe, Winter Sarah, Michot Caroline, Baujat Geneviève, Bressac Brigitte, Adam de Beaumais Tiphaine, Rouchaud Aymeric, Mihoubi-Bouvier Fadila, Bourdeaut Franck, Brugières Laurence, Leblanc Thierry, Kasper Edwige, Corradini Nadège
Department of Medical Oncology, Cochin Hospital, Paris Cancer Institute CARPEM, AP-HP, Université Paris Cité, Paris, France; Institut Cochin, Inserm U1016, CNRS UMR8104, CARPEM, Université Paris Cité, Paris, France.
Department of Genetics, Inserm U1245, CHU de Rouen, Normandie Université, Université Rouen Normandie, 76000 Rouen, France.
Bull Cancer. 2025 Jun;112(6):664-680. doi: 10.1016/j.bulcan.2024.10.014. Epub 2025 Jan 22.
Bone sarcomas, constituting less than 1% of malignant neoplasms across all age groups, are rare tumours possibly associated with genetic susceptibility syndromes. This review aims to provide recommendations for the detection of cancer predisposition syndromes associated with bone sarcomas and managing affected patients. Recommendations were formulated by a multidisciplinary working and reviewing group from GroupOs and SFCE oncogenetic's group, including geneticists, oncologists, and radiologists. For various bone sarcomas including osteosarcomas, chondrosarcomas and Ewing sarcomas, we delineate tumour presentation, management strategies, and follow-up within the context of cancer predisposition syndromes. The inherited predisposition syndrome, associated with germline TP53 variants, known as the Li-Fraumeni syndrome, is the most frequent implicated in osteosarcoma cases. Other cancer predisposition syndromes, such as RB1, RECQ or CDKN2A disorders in osteosarcomas and Ollier and Maffucci diseases in chondrosarcomas, are also recognized. Additionally, we discuss rarer cancer predisposition syndromes associated with bone sarcomas and suggest tailored treatment approaches in some cancer predisposition syndromes to mitigate severe toxicities or secondary oncological events. Furthermore, we emphasize the role of identification somatic molecular variations in identifying constitutional germline variants and describe national and international screening programs, reference networks and molecular tumour boards available for collegial and collaborative management discussion. This comprehensive review provides insights into the intricate interplay between genetic predisposition, tumour biology, and therapeutic interventions in bone sarcoma patients with cancer predisposition syndrome.
骨肉瘤在所有年龄组的恶性肿瘤中占比不到1%，是一种罕见肿瘤，可能与遗传易感性综合征有关。本综述旨在为检测与骨肉瘤相关的癌症易感性综合征以及管理受影响患者提供建议。这些建议由来自GroupOs和SFCE肿瘤遗传学小组的多学科工作和审查小组制定，成员包括遗传学家、肿瘤学家和放射科医生。对于各种骨肉瘤，包括骨肉瘤、软骨肉瘤和尤文肉瘤，我们在癌症易感性综合征的背景下描述肿瘤表现、管理策略和随访情况。与种系TP53变异相关的遗传性易感性综合征，即李-佛美尼综合征，是骨肉瘤病例中最常涉及的。其他癌症易感性综合征，如骨肉瘤中的RB1、RECQ或CDKN2A紊乱，以及软骨肉瘤中的奥利尔病和马富西病，也已得到认可。此外，我们讨论了与骨肉瘤相关的罕见癌症易感性综合征，并建议在某些癌症易感性综合征中采用量身定制的治疗方法，以减轻严重毒性或继发性肿瘤事件。此外，我们强调识别体细胞分子变异在识别构成性种系变异中的作用，并描述了可用于共同和协作管理讨论的国家和国际筛查计划、参考网络和分子肿瘤委员会。这一全面综述深入探讨了骨肉瘤患者癌症易感性综合征中遗传易感性、肿瘤生物学和治疗干预之间的复杂相互作用。
