TY - JOUR
T1 - Bone sarcomas and cancer predisposition syndromes
AU - GROUPOS SFCE oncogenetic's groups
AU - Tlemsani, Camille
AU - Bougeard, Gaëlle
AU - Gauthier-Villars, Marion
AU - Denizeau, Philippe
AU - Winter, Sarah
AU - Michot, Caroline
AU - Baujat, Geneviève
AU - Bressac, Brigitte
AU - Adam de Beaumais, Tiphaine
AU - Rouchaud, Aymeric
AU - Mihoubi-Bouvier, Fadila
AU - Bourdeaut, Franck
AU - Brugières, Laurence
AU - Leblanc, Thierry
AU - Kasper, Edwige
AU - Corradini, Nadège
N1 - Publisher Copyright:
© 2025 Société Française du Cancer
PY - 2025/1/1
Y1 - 2025/1/1
N2 - 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.
AB - 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.
KW - AYA cancer
KW - Bone tumours
KW - Genetic predisposition
KW - Hereditary diseases
KW - Li-Fraumeni syndrome
KW - Sarcomas
UR - http://www.scopus.com/inward/record.url?scp=85215847942&partnerID=8YFLogxK
U2 - 10.1016/j.bulcan.2024.10.014
DO - 10.1016/j.bulcan.2024.10.014
M3 - Article
AN - SCOPUS:85215847942
SN - 0007-4551
JO - Bulletin du Cancer
JF - Bulletin du Cancer
ER -