GeneHealth - Your precision medicine

Osteosarcoma

Disease Details

Family Health Simplified

Buy Membership

Description: Osteosarcoma is a type of aggressive bone cancer that predominantly affects the long bones in the arms and legs of children and young adults.
Type: Osteosarcoma is a type of bone cancer. It typically arises sporadically with no clear pattern of genetic transmission. However, certain genetic conditions, such as hereditary retinoblastoma and Li-Fraumeni syndrome, can increase the risk of developing osteosarcoma.
Signs And Symptoms: Many patients first complain of pain that may be worse at night, may be intermittent and of varying intensity and may have been occurring for a long time. Teenagers who are active in sports often complain of pain in the lower femur, or immediately below the knee. If the tumor is large, it can present as overt localised swelling. Sometimes a sudden fracture is the first symptom because the affected bone is not as strong as normal bone and may fracture abnormally with minor trauma. In cases of more deep-seated tumors that are not as close to the skin, such as those originating in the pelvis, localised swelling may not be apparent.
Prognosis: Prognosis is separated into three groups.

Stage I osteosarcoma is rare and includes parosteal osteosarcoma or low-grade central osteosarcoma. It has an excellent prognosis (>90%) with wide resection.
Stage II prognosis depends on the site of the tumor (proximal tibia, femur, pelvis, etc.), size of the tumor mass, and the degree of necrosis from neoadjuvant chemotherapy. Other pathological factors such as the degree of p-glycoprotein, whether the tumor is cxcr4-positive, or Her2-positive are also important, as these are associated with distant metastases to the lung. The prognosis for patients with metastatic osteosarcoma improves with longer times to metastases (more than 12 months to 4 months), a smaller number of metastases, and their resectability. It is better to have fewer metastases than longer time to metastases. Those with a longer length of time (more than 24 months) and few nodules (two or fewer) have the best prognosis, with a two-year survival after the metastases of 50%, five-year of 40%, and 10-year of 20%. If metastases are both local and regional, the prognosis is worse.
Initial presentation of stage III osteosarcoma with lung metastases depends on the resectability of the primary tumor and lung nodules, degree of necrosis of the primary tumor, and maybe the number of metastases. Overall survival prognosis is about 30%.Deaths due to malignant neoplasms of the bones and joints account for an unknown number of childhood cancer deaths. Mortality rates due to osteosarcoma have been declining at about 1.3% per year. Long-term survival probabilities for osteosarcoma have improved dramatically during the late 20th century and approximated 68% in 2009.
Onset: Onset: Osteosarcoma most commonly occurs during periods of rapid bone growth, making it most prevalent in teenagers and young adults. However, it can also affect older adults, particularly those with predisposing conditions or previous radiation therapy.

Nan: The term "nan" is unclear in this context. If you intended to ask about a specific aspect of osteosarcoma or to clarify what "nan" refers to, please provide more details.
Prevalence: Osteosarcoma is a rare and aggressive type of bone cancer. It accounts for approximately 2-3% of all childhood cancers and about 20% of all primary bone cancers. The incidence rate is about 3-4 cases per million people per year. It primarily affects children and young adults, with a peak incidence during the adolescent growth spurt.
Epidemiology: Osteosarcoma is the eighth-most common form of childhood cancer, comprising 2.4% of all malignancies in pediatric patients, and about 20% of all primary bone cancers.Incidence rates for osteosarcoma in U.S. patients under 20 years of age are estimated at 5.0 per million per year in the general population, with a slight variation between individuals of black, Hispanic, and white ethnicities (6.8, 6.5, and 4.6 per million per year, respectively). It is slightly more common in males (5.4 per million per year) than in females (4.0 per million per year).It originates more frequently in the metaphyseal region of tubular long bones, with 42% occurring in the femur, 19% in the tibia, and 10% in the humerus. About 8% of all cases occur in the skull and jaw, and another 8% in the pelvis.Around 300 of the 900 people diagnosed in the United States will die each year. A second peak in incidence occurs in the elderly, usually associated with an underlying bone pathology such as Paget's disease of bone.
Intractability: Osteosarcoma is a type of bone cancer that can be challenging to treat, especially if it has spread to other parts of the body. However, it is not necessarily intractable. Treatment options such as surgery, chemotherapy, and radiation therapy can be effective, particularly when the cancer is detected early and has not metastasized. Advances in medical research and treatment protocols continue to improve outcomes for patients with osteosarcoma. Nonetheless, the prognosis can vary depending on several factors, including the stage of the disease and the individual patient's response to treatment.
Disease Severity: **Disease Severity:**
Osteosarcoma is generally considered a severe disease. It is an aggressive form of cancer that often requires intensive treatment, including surgery, chemotherapy, and sometimes radiation therapy. The severity can vary based on factors like the size and location of the tumor, whether it has spread (metastasized) to other parts of the body, and the patient's overall health and response to treatment. Early diagnosis and treatment are crucial for improving outcomes.
Healthcare Professionals: Disease Ontology ID - DOID:3347
Pathophysiology: Osteosarcoma is a type of primary bone cancer that typically arises in the metaphyseal region of long bones, most commonly affecting the distal femur, proximal tibia, and proximal humerus. It involves the production of malignant osteoid tissue or immature bone by cancerous osteoblasts. The exact pathophysiology of osteosarcoma is not fully understood, but it is associated with genetic mutations and complex chromosomal abnormalities, including alterations in the RB1 and TP53 tumor suppressor genes. These mutations can lead to uncontrolled cell proliferation and inhibition of normal apoptotic pathways, facilitating the aggressive and invasive nature of the tumor. It frequently metastasizes to the lungs and other bones, contributing to its morbidity and mortality.
Carrier Status: Osteosarcoma is a type of bone cancer, primarily affecting the long bones in the body. It is not typically associated with a carrier status as it is generally not inherited in a straightforward Mendelian manner. Instead, it arises from sporadic mutations and environmental factors. However, certain genetic conditions and syndromes, such as Li-Fraumeni syndrome and hereditary retinoblastoma, can predispose individuals to developing osteosarcoma, but these are specific and less common cases.
Mechanism: Osteosarcomas tend to occur at the sites of bone growth, presumably because proliferation makes osteoblastic cells in this region prone to acquire mutations that could lead to transformation of cells (the RB gene and p53 gene are commonly involved). The tumor may be localized at the end of the long bone (commonly in the metaphysis). Most often it affects the proximal end of tibia or humerus, or distal end of femur. Osteosarcoma tends to affect regions around the knee in 60% of cases, 15% around the hip, 10% at the shoulder, and 8% in the jaw. The tumor is solid, hard, irregular ("fir-tree," "moth-eaten", or "sun-burst" appearance on X-ray examination) due to the tumor spicules of calcified bone radiating at right angles. These right angles form what is known as a Codman triangle, which is characteristic but not diagnostic of osteosarcoma. Surrounding tissues are infiltrated.
Microscopically: The characteristic feature of osteosarcoma is presence of osteoid (bone formation) within the tumor. Tumor cells are very pleomorphic (anaplastic), some are giant, numerous atypical mitoses. These cells produce osteoid describing irregular trabeculae (amorphous, eosinophilic/pink) with or without central calcification (hematoxylinophilic/blue, granular)—tumor bone. Tumor cells are included in the osteoid matrix. Depending on the features of the tumor cells present (whether they resemble bone cells, cartilage cells, or fibroblast cells), the tumor can be subclassified. Osteosarcomas may exhibit multinucleated osteoclast-like giant cells.
Treatment: A complete radical, surgical, en bloc resection of the cancer, is the treatment of choice in osteosarcoma. Although most patients are able to have limb-salvage surgery, complications—particularly infection, prosthetic loosening and non-union, or local tumor recurrence—may cause the need for further surgery or amputation.Mifamurtide is used after a patient has had surgery to remove the tumor and together with chemotherapy to kill remaining cancer cells to reduce the risk of cancer recurrence. Also, the option to have rotationplasty after the tumor is taken out exists.Patients with osteosarcoma are best managed by a medical oncologist and an orthopedic oncologist experienced in managing sarcomas. Current standard treatment is to use neoadjuvant chemotherapy (chemotherapy given before surgery) followed by surgical resection. The percentage of tumor cell necrosis (cell death) seen in the tumor after surgery gives an idea of the prognosis and also lets the oncologist know if the chemotherapy regimen should be altered after surgery.Standard therapy is a combination of limb-salvage orthopedic surgery when possible (or amputation in some cases) and a combination of high-dose methotrexate with leucovorin rescue, intra-arterial cisplatin, adriamycin, ifosfamide with mesna, BCD (bleomycin, cyclophosphamide, dactinomycin), etoposide, and muramyl tripeptide. Rotationplasty may be used. Ifosfamide can be used as an adjuvant treatment if the necrosis rate is low.Despite the success of chemotherapy for osteosarcoma, it has one of the lowest survival rates for pediatric cancer. The best reported 10-year survival rate is 92%; the protocol used is an aggressive intra-arterial regimen that individualizes therapy based on arteriographic response. Three-year event-free survival ranges from 50% to 75%, and five-year survival ranges from 60% to 85+% in some studies. Overall, 65–70% patients treated five years ago will be alive today. These survival rates are overall averages and vary greatly depending on the individual necrosis rate.Filgrastim or pegfilgrastim help with white blood cell counts and neutrophil counts. Blood transfusions and epoetin alfa help with anemia. Computational analysis on a panel of osteosarcoma cell lines identified new shared and specific therapeutic targets (proteomic and genetic) in osteosarcoma, while phenotypes showed an increased role of tumor microenvironments.
Compassionate Use Treatment: Compassionate use treatments for osteosarcoma can include access to investigational drugs or therapies not yet approved by regulatory agencies. This typically applies to patients who have no other treatment options available and involves a case-by-case evaluation.

Off-label or experimental treatments for osteosarcoma might include:
1. **Immunotherapy**: Certain immune checkpoint inhibitors or adoptive cell therapies are being explored.
2. **Targeted Therapy**: Drugs that target specific genetic mutations or pathways involved in osteosarcoma, such as kinase inhibitors.
3. **Chemotherapy Combinations**: Using novel combinations of existing chemotherapeutic agents.
4. **Radiopharmaceuticals**: Agents like Radium-223 are being investigated for their potential to target bone tumors selectively.
5. **Gene Therapy**: Techniques aimed at correcting genetic abnormalities associated with osteosarcoma.
6. **Monoclonal Antibodies**: Antibodies designed to target specific antigens on cancer cells.

These treatments are often available through clinical trials and require careful consideration by a medical professional.
Lifestyle Recommendations: Osteosarcoma, a type of bone cancer, often requires a multidisciplinary approach for management and treatment. While specific lifestyle changes alone cannot cure osteosarcoma, certain recommendations can support overall health and treatment outcomes:

1. **Nutrition**: Maintain a balanced diet rich in fruits, vegetables, lean proteins, and whole grains to support the immune system and overall well-being. This can help patients cope better with treatments like chemotherapy and surgery.

2. **Physical Activity**: Engage in regular, moderate physical activity as tolerated. Exercise can help maintain muscle strength, reduce fatigue, improve mood, and enhance the quality of life. However, physical activity should be tailored to individual capabilities, especially if surgery or weakened bones are involved.

3. **Avoiding Smoking and Alcohol**: Smoking and excessive alcohol consumption can impair the immune system and overall health, potentially complicating treatment and recovery. It is recommended to avoid these substances.

4. **Stress Management**: Manage stress through techniques such as meditation, yoga, or counseling. Emotional and psychological support is crucial for coping with a cancer diagnosis and the challenges of treatment.

5. **Regular Monitoring**: Follow-up with regular medical appointments and screenings as advised by your healthcare provider to monitor the disease and treatment efficacy.

6. **Infection Control**: Due to potential immune system suppression from treatments, it is essential to practice good hygiene, avoid crowded places, and stay away from sick individuals to minimize infection risk.

7. **Support Systems**: Engage in support groups or counseling services for emotional and psychological support. Connecting with others facing similar challenges can provide comfort and reduce feelings of isolation.

These lifestyle recommendations can help manage osteosarcoma and improve treatment outcomes, but they should complement medical treatments as prescribed by healthcare professionals.
Medication: In the management of osteosarcoma, chemotherapy is a critical component. Commonly used medications include:

1. **Doxorubicin**: An anthracycline antibiotic used for its antineoplastic properties.
2. **Cisplatin**: A platinum-based drug effective in killing dividing cancer cells.
3. **Methotrexate**: A folate analog that interferes with DNA synthesis.
4. **Ifosfamide**: An alkylating agent that impairs DNA replication.

Alongside chemotherapy, treatments like surgery and, in some cases, radiation therapy are employed. Innovations in drug delivery, such as using nanoparticles to target tumor cells more effectively, are also being investigated.

If you seek detailed information about a particular aspect, please specify.
Repurposable Drugs: For osteosarcoma, several repurposable drugs have been explored for their potential benefit. These include:

1. **Bisphosphonates**: Traditionally used to treat osteoporosis, they may help inhibit bone resorption and tumor growth.
2. **Metformin**: Commonly used for diabetes, it has shown some anti-tumor effects in preclinical studies.
3. **Celecoxib**: A nonsteroidal anti-inflammatory drug (NSAID) that may inhibit tumor growth through COX-2 inhibition.
4. **Statins**: Primarily used to lower cholesterol, they have demonstrated some anti-cancer properties in research studies.

"Nan" typically stands for nanomedicine, which involves the use of nanoparticles for drug delivery in cancer treatment. Researchers are investigating various nanotechnology-based strategies for osteosarcoma to improve drug delivery, enhance therapeutic effectiveness, and reduce side effects.
Metabolites: Osteosarcoma is a primary malignant bone tumor. Key metabolites that have been studied in the context of osteosarcoma include:

1. **Lactic Acid**: Elevated levels are often found due to the Warburg effect, where cancer cells predominantly produce energy through glycolysis.
2. **Choline-containing Compounds**: Increased levels are associated with cell membrane turnover and proliferation.
3. **Phosphocreatine**: Alterations in levels may occur due to changes in energy metabolism.

These metabolites can provide insights into the metabolic alterations occurring in osteosarcoma cells, potentially aiding in diagnosis or treatment strategies.
Nutraceuticals: Nutraceuticals refer to food-derived products with potential health benefits, including prevention or treatment of diseases. Some nutraceuticals that have been explored in the context of osteosarcoma include curcumin, resveratrol, and omega-3 fatty acids, which may have anti-inflammatory and anti-tumor properties. However, further research is needed to establish their efficacy and safety in osteosarcoma treatment.

Nanotechnology in osteosarcoma focuses on developing nanoparticles for targeted drug delivery, imaging, and diagnosis. Nanoparticles can enhance the delivery of chemotherapeutic agents directly to tumor cells, potentially reducing side effects and improving treatment outcomes. Research in this field is ongoing to optimize nanoparticle formulations and ensure their safety and effectiveness.
Peptides: In the context of osteosarcoma, peptides and nanotechnology can play significant roles in therapeutic and diagnostic applications. Peptides can be engineered to target cancer-specific biomarkers, aiding in the delivery of drugs directly to osteosarcoma cells. Nanotechnology enables the development of nanoscale drug delivery systems, such as nanoparticles and nanocarriers, that can encapsulate these therapeutic peptides or other drugs, improving their stability, bioavailability, and targeting specificity. This combination enhances the effectiveness of treatments while reducing side effects, representing a promising area in osteosarcoma research and therapy.