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Bone cancer refers to primary malignancies originating in bone tissue, distinct from metastatic cancers spreading to bone. Major types include osteosarcoma (35%, common in children/teens, affecting long bones like femur/tibia), chondrosarcoma (30%, arising in cartilage, typical in adults), and Ewing sarcoma (15%, aggressive in adolescents). Rare types include chordoma and fibrosarcoma. Primary bone cancers are rare, comprising 0.2% of all cancers, with approximately 3,500 new US cases annually in 2025. Osteosarcoma and Ewing sarcoma often occur in rapidly growing bones, while chondrosarcoma affects older adults (median age 50).
Symptoms include persistent, localized bone pain (often worse at night or with activity), swelling or tenderness near the affected bone, spontaneous fractures due to weakened bone structure, reduced mobility, and palpable lumps. Advanced or metastatic disease (commonly to lungs) may cause fatigue, weight loss, fever, anemia, or respiratory symptoms (e.g., cough, shortness of breath). Symptoms can mimic growing pains or injuries in young patients, delaying diagnosis by 3-6 months on average.
The etiology is largely unknown, but genetic and environmental factors contribute. Genetic syndromes (e.g., Li-Fraumeni, Rothmund-Thomson, hereditary retinoblastoma) increase risk, particularly for osteosarcoma. Paget’s disease of bone, prior radiation therapy, or bone marrow transplants elevate risk for chondrosarcoma and osteosarcoma. Ewing sarcoma is associated with specific translocations (e.g., EWSR1-FLI1). No strong lifestyle links exist, though high-dose radiation exposure is a risk. In 2025, mutations in TP53, RB1, and MYC are identified as key drivers, with tumor microenvironment studies revealing growth mechanisms.
Diagnosis begins with imaging: X-rays detect bone abnormalities (e.g., osteolytic lesions in osteosarcoma), while MRI/CT defines tumor extent and soft tissue involvement. Bone scans or PET assess metastasis, particularly to lungs or other bones. Biopsy (needle or open surgical) confirms tumor type and grade, with immunohistochemistry and molecular testing (e.g., for EWSR1) aiding classification. Blood tests (alkaline phosphatase, LDH) support prognosis. In 2025, AI-enhanced imaging improves detection sensitivity by 25%, and NGS identifies actionable mutations for personalized therapy.
Treatment is multidisciplinary. For osteosarcoma and Ewing sarcoma, neoadjuvant chemotherapy (e.g., doxorubicin, cisplatin, methotrexate for osteosarcoma; vincristine, doxorubicin, cyclophosphamide for Ewing) shrinks tumors, followed by limb-sparing surgery or amputation (5-10% of cases). Adjuvant chemotherapy reduces recurrence. Chondrosarcoma, less chemo-sensitive, relies on wide surgical resection. Radiation (e.g., proton therapy) is used for Ewing sarcoma or unresectable tumors. Targeted therapies like denosumab (for giant cell tumors) or TKIs (for chordomas) are emerging. In 2025, pivekimab sunirine (ADC) and dual-target CAR-T therapies show 30-40% response in metastatic osteosarcoma, with bioengineered 3D models aiding drug testing.
In 2025, 5-year survival is 60-70% for localized bone cancers (80% for low-grade chondrosarcoma) but 20-30% for metastatic disease (common in osteosarcoma/Ewing). Advances in ADCs, CAR-T, and immune checkpoint inhibitors improve control in aggressive cases, extending progression-free survival by 12-18 months. Research focuses on tumor microenvironment modulation, mRNA vaccines, and AI-driven surgical planning. By 2030, these could increase localized survival to 80% and metastatic to 40%, with emphasis on early detection and resistance mechanisms.
The information for bone cancer is sourced from the National Cancer Institute’s “Bone Cancer Treatment (PDQ®)” for comprehensive details on understanding, symptoms, causes, diagnosis, and treatment; MD Anderson’s “5 emerging therapies presented at ASCO 2025” for updates on immunotherapy and ADCs; UroToday’s “UCSD Bone Cancer Clinical Trials for 2025” for ongoing trial insights; Mayo Clinic’s “Transforming bone cancer treatment” for surgical and therapeutic advancements; and Cancer Imaging’s “Advances in bone malignancy research through next-generation sequencing” for genomic and molecular research progress.
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