Osteosarcoma: Causes, Symptoms and Diagnosis

Osteosarcoma is a malignant bone tumor that primarily affects children and adolescents during their peak growth period. This cancerous growth can originate in any bone segment, but it tends to develop more commonly in areas that have a rapid growth rate, such as the ends of long bones like the tibia, femur, and humerus. It can also occur in other locations such as the hip, pelvis, shoulder, and jaw.

Causes and Risk Factors of Osteosarcoma

The process of osteosarcoma leads to the destruction of normal bone tissue. In some cases, the tumor can weaken the structure of the bone to the point of causing pathological fractures. This malignant tumor develops from the bone tissue itself, hence it is a primary bone tumor. It is crucial to differentiate osteosarcoma from bone metastases.

While the exact causes of osteosarcoma are still unknown, certain risk factors have been identified. Most cases of osteosarcoma appear sporadically, in individuals without a familial predisposition or other concomitant pathological conditions.

Osteosarcoma is likely caused by a combination of genetic alterations, which together trigger the transformation of immature bone cells into tumors. Instead of differentiating and organizing themselves to form healthy bone, these cells begin to replicate rapidly, disrupting the normal bone structure. The specific gene alterations that induce the hyperactivity of these cells are still under investigation.

Osteosarcoma can occur at any age, but most cases affect children and young adults, between the ages of 10 and 30. A second peak in incidence occurs in adults over age 60, usually in patients with a previous bone disease. Osteosarcoma affects male patients more frequently.

Certain conditions such as retinoblastoma, Li-Fraumeni syndrome, and Rothmund-Thomson syndrome are known to predispose individuals to the development of osteosarcoma. Furthermore, people who have received radiation therapy for other types of cancer are more likely to develop osteosarcoma. Exposure to radiation at a young age increases the risk.

Symptoms of Osteosarcoma

Symptoms of osteosarcoma depend on the location and size of the tumor. Patients may experience localized pain, bone fractures, skin redness and swelling at the tumor site, and limitation of movement. At the onset of the disease, the pain may be intermittent and vague, worsening at night or during physical activity. Over time, the pain tends to become persistent and more severe.

Symptoms of osteosarcoma can mimic the pain caused by normal bone growth, except that these tend to stop during the early teenage years. As the tumor progresses, other general symptoms such as fatigue, excessive sweating, back pain, or loss of bowel or bladder control may occur. If the cancer spreads to other parts of the body, various other symptoms may develop.

Image that shows the progression of osteosarcoma

Diagnosing Osteosarcoma

Doctors use specific tests to diagnose osteosarcoma and determine the presence of any metastases. The diagnostic process usually begins with obtaining radiographic images of the suspected region, followed by a combination of other imaging tests, and ends with a biopsy. Diagnostic imaging helps establish the presence and location of a tumor and can determine whether the osteosarcoma has metastasized.

Staging

Staging is a system that allows doctors to describe the location of the tumor and its possible extension to other parts of the body. This information helps to establish the most suitable treatment and formulate a prognosis. Osteosarcoma can be defined as localized, metastatic, or recurrent.

Treatment Options for Osteosarcoma

The choice of treatment depends on several factors, including the type and stage of the tumor, possible side effects, and the patient's general health condition. The standard approach for managing osteosarcoma involves a chemotherapy regimen, followed by surgical resection.

Chemotherapy

Chemotherapy involves the use of drugs capable of killing tumor cells, stopping their ability to proliferate. For osteosarcoma, chemotherapy is systemic, administered orally, intravenously, or intramuscularly. The chemotherapy regimen involves one or more cycles before surgery to reduce the size of the tumor and avoid amputation. After the surgical procedure, additional chemotherapy cycles are administered to destroy any residual tumor cells.

Surgery

In most cases, surgeons perform conservative interventions, often involving surgical removal of the tumor and surrounding bone tissue. To maintain function and give a more normal appearance to the limb, surgery may be completed with a bone graft and reconstructive surgery techniques. Alternatively, the diseased part of the bone can be replaced with a prosthesis.

Radiotherapy

Radiotherapy involves the destruction of tumor cells using high-energy radiation. In the management of osteosarcoma, this treatment is not very effective, but it can help reduce the size of the tumor mass before surgery or control symptoms in more advanced stages of the disease.

After treatment, your doctor may establish a monitoring plan. This may include regular physical examinations and/or investigations to evaluate the patient's recovery and exclude the occurrence of tumor recurrence or late effects.

Prognosis

If the tumor is limited to the original bone, the prognosis is good. The survival rate decreases if the cancer has metastasized to other parts of the body. However, there is still a possibility of effective treatment. If the cancer has spread to the lungs, the outlook is worse.

Despite the challenges posed by osteosarcoma, there are stories of extraordinary recovery and resilience. For instance, Daniel Jacobs, a renowned middleweight boxing champion was diagnosed with osteosarcoma of the spine in 2011. After surgical removal and intense radiotherapy, he returned to the ring 15 months later, continuing his extraordinary career by scoring ten consecutive victories by knockout. His story serves as a beacon of hope for those battling this disease.

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The Wellyme Team

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