Bone cancer is a rare type of cancer that occurs in the skeletal system. It typically occurs due to changes in genes that affect how cells grow. While people typically acquire these gene changes throughout life, inheriting certain genes may increase a person’s risk of bone cancer.

Bone cancer is an uncommon type of cancer that develops when cells in the bone begin to grow out of control. There are many different types of bone cancer. They include:

• osteosarcoma
• Ewing sarcoma
• malignant fibrous histiocytoma
• chondrosarcoma

While more research is necessary to understand the precise cause of bone cancer, evidence notes that there is a range of risk factors, including genetics. In some cases, a person may inherit gene variations that increase their risk of bone cancer.

In this article, we will discuss genetic factors that influence the development of bone cancer.

Evidence notes that certain types of bone cancer are hereditary. Some cancers can occur due to gene variations, which may result in oncogenes, or turning off tumor suppressor genes.

In some cases, people may inherit gene changes that increase their risk of developing bone cancer. However, a person typically acquires most gene changes that lead to bone cancer during their life rather than inheriting them from a parent.

Additionally, certain genetic conditions may increase a person’s risk of bone cancer. These include:

• Li-Fraumeni syndrome (LFS): This condition occurs due to a variation in gene TP53. This gene is responsible for producing a protein, which acts as a tumor suppressor. People living with LFS are at a higher risk of developing certain cancers, including bone cancer.
• Hereditary multiple osteochondromas (HMO): Also known as hereditary multiple exostoses, this condition causes benign bone tumors — osteochondromas — which mainly consist of cartilage. There is small risk that these tumors can transform into a rare bone cancer known as chondrosarcoma. It occurs due to alterations in either the EXT1 or EXT2 gene.
• Retinoblastoma: This term refers to a rare eye cancer that occurs in children due to alterations in the RB1 tumor suppressor gene. Evidence notes that people with retinoblastoma have a higher risk of developing other cancers, such as bone cancer.
• Rothmund-Thomson syndrome (RTS): This is a rare, inherited condition that can affect various parts of the body. It occurs due to a change in the RECQL4 gene, and people with RTS have an increased risk of developing cancer, including bone cancer, at an early age.
• Werner syndrome (WS): This rare condition occurs due to an alteration in the WRN gene, which produces a protein that plays a role in DNA repair. People living with WS have a higher risk of certain cancers, including bone cancer.
• Diamond-Blackfan anemia: This is a very rare condition that causes the bone marrow to not produce enough red blood cells. It can result in an increased risk of cancer, including bone cancer.

Some bone cancers do not have any known risk factors or obvious causes. However, for some types, certain factors may increase the risk of developing cancer. Risk factors can differ slightly for different types of bone cancer, but include:

• older age
• noncancerous bone tumors
• Paget’s disease of bone
• previous radiation therapy

Additionally, other factors may influence the risk of certain bone cancers. For example, osteosarcoma is more common in very tall children, and Ewing tumors are more prevalent in white people. Both of these types of bone cancer are also more common in males.

According to the American Cancer Society, symptoms of bone cancer may include:

• pain
• bone fractures
• lumps or swelling
• weight loss
• fatigue
• numbness and tingling

If a person presents with symptoms that may indicate bone cancer, a doctor will initially recommend a physical exam. During this, the doctor may be able to see or identify an abnormal mass. They may request imaging tests, such as an X-ray, MRI, or bone scan, to further investigate any suspicious areas.

If the results of imaging tests strongly suggest bone cancer, a doctor will take a biopsy sample to confirm the diagnosis. Typically, an orthopedic surgeon or oncologist will perform the biopsy. The type of biopsy they perform will depend on various factors, such as the appearance, type, and size of the tumor.

After performing the biopsy, a pathologist will take the sample and examine the tissue to determine whether it is cancerous.

Treatment for bone cancer will typically depend on the type, size, location, and stage of the cancer. A doctor will also consider other factors, such as a person’s age and their general health. Treatment options include:

• Surgery: The main goal of surgery is to remove the tumor. When possible, with bone cancer, it is best to plan the biopsy and surgery together. This is to ensure that the orthopedic surgeon performs the biopsy in a certain way to give the best chance that less extensive surgery will be necessary later.
• Radiation therapy: This type of treatment uses high-energy rays or particles to kill cancer cells. However, as high doses are necessary to treat bone cancer, this can cause damage to nearby tissues. Therefore, radiation therapy is not typically the main treatment for most types of bone cancer.
• Chemotherapy: This treatment administers drugs via a vein to treat cancer. Chemotherapy is often an important part of treatment for Ewing sarcoma and osteosarcoma. However, chemo drugs are usually less effective for other types of bone cancer.
• Targeted therapy: These types of drugs work differently than chemo drugs because they specifically target certain gene changes inside cells to treat cancer. They typically play a role in treating bone cancers where chemo is not effective, such as chordomas.

Bone cancer is a rare type of cancer that typically occurs due to gene changes. Typically, these changes result from factors such as exposure to radiation.

However, some people may inherit gene variations from a parent that can increase their risk of developing bone cancer.

Treatment includes surgery, chemotherapy, and targeted therapy.