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Updated: May 31, 2025
11:42
Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells
Published on: April 7, 2017
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Bone sarcomas and cancer predisposition syndromes.
Camille Tlemsani1, Gaëlle Bougeard2, Marion Gauthier-Villars3
1Department 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.
Bulletin Du Cancer
|January 23, 2025
Summary
Identifying genetic predisposition syndromes is crucial for managing bone sarcomas. This review offers guidance on detecting and managing these rare cancers in patients with inherited cancer predisposition syndromes.
Area of Science:
- Oncology
- Genetics
- Medical Research
Background:
- Bone sarcomas are rare malignant neoplasms, often linked to genetic susceptibility syndromes.
- Less than 1% of all malignant neoplasms are bone sarcomas, affecting all age groups.
- Understanding genetic links is vital for early detection and management.
Purpose of the Study:
- To provide recommendations for detecting cancer predisposition syndromes in bone sarcoma patients.
- To guide the management of patients with bone sarcomas and associated genetic syndromes.
- To review tumour presentation, management, and follow-up strategies within the context of inherited predispositions.
Main Methods:
- Multidisciplinary working group including geneticists, oncologists, and radiologists.
- Review of tumour presentation, management strategies, and follow-up for specific bone sarcomas.
- Analysis of genetic syndromes associated with osteosarcomas, chondrosarcomas, and Ewing sarcomas.
Main Results:
- Li-Fraumeni syndrome (TP53 variants) is the most frequent predisposition for osteosarcoma.
- RB1, RECQ, CDKN2A disorders (osteosarcomas) and Ollier/Maffucci diseases (chondrosarcomas) are also recognized.
- Somatic molecular variation identification aids in detecting constitutional germline variants.
Conclusions:
- Early identification of cancer predisposition syndromes improves bone sarcoma patient outcomes.
- Tailored treatment approaches can mitigate toxicities and secondary oncological events.
- Collaboration through screening programs, networks, and molecular tumor boards is essential for optimal care.
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