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About Sarcoma

About Sarcoma

Sarcoma is a type of cancer that begins in the connective tissues of the body. These tissues include fat, blood vessels, nerves, bones, muscles, deep layers of the skin, tendons, and cartilage. Sarcoma often appears as a tumor, which may feel like a lump, bump, or mass.

Sarcomas are grouped into two main categories: bone tumors and soft tissue tumors. Each category includes more specific subtypes based on the kind of cells that make up the tumor. There are more than one hundred known types of sarcoma, and many of them are considered rare.

1.7%

83%

17k

How Rare are Sarcoma Cancers?

Of the 1.7 million people who are diagnosed with cancer in the United States each year:

About 1% (17,000) will be diagnosed with sarcoma cancer.

Some sarcomas are so rare that only a few people are diagnosed with that type each year.

In children under age 18, where cancer is rare already, sarcomas are in the top 5 most diagnosed cancers.

How Can You Diagnose Sarcomas?

Sometimes a cancer diagnosis is made quickly, especially when symptoms are clear and a person receives prompt medical attention. Diagnosing a new sarcoma can take longer, and this can be confusing or stressful for patients and families. A few reasons include:

Symptoms may feel vague or familiar. Many early signs of sarcoma, such as a lump, bump, or ongoing pain in a joint, are common experiences that do not always point to cancer.

Sarcoma can begin in many places. Because these tumors can form almost anywhere in the body, they may go unnoticed for some time before they cause concern.

Sarcomas may be mistaken for more common conditions. Since noncancerous issues are far more likely, sarcomas are sometimes misdiagnosed as an injury, a pulled muscle, or a benign fatty tumor known as a lipoma.

If you or a loved one is seeking clarity, know that you are not alone. Many people reach a sarcoma diagnosis only after several steps, and support is available throughout the process.

Diagnosing Sarcomas?

Sometimes the diagnosis of cancer comes quickly, if a person has obvious symptoms and received prompt evaluation. However, diagnosing a new sarcoma can sometimes be challenging. Some reasons include:

The symptoms might be vague. The symptoms are ones that many people experience, such as a lump bump or pain in a joint.

Sarcoma tumors can form almost anywhere in the body and may be present for a long time before they are recognized.

Sarcomas can be misdiagnosed. Since non-cancerous diagnoses are far more common, sarcoma tumors can be easily mistaken for trauma, a “pulled muscle” or a benign fatty tumor called lipoma.

What We Know About The Causes Of Sarcoma?

Sarcomas are rare cancers, and because they occur in many different forms, researchers are still learning what causes them. Many studies group several types of sarcoma together so scientists can gather enough information to look for patterns. This approach helps advance research, even though each sarcoma subtype has its own unique characteristics. Here is what we do know:

Cancer begins when something changes in the DNA of a cell. DNA acts as the body’s blueprint, and changes to that blueprint are called mutations.

Some mutations are present at birth, while others develop over time. Most are harmless, but certain mutations can cause cells to grow in ways they should not, which can lead to cancer.

Most gene mutations happen by chance. A smaller number are inherited from a parent. Inherited genetic conditions account for about five to ten percent of all cancers, and only a small portion of those are associated with sarcoma.When a hereditary risk is suspected, a doctor may recommend genetic testing through a simple blood or saliva sample.

While most sarcomas cannot be linked to a specific cause, a few environmental factors are known to increase risk:

A viral infection called Human Herpesvirus 8 (HHV-8) can lead to a type of sarcoma known as Kaposi sarcoma. This is more common in people with weakened immune systems, including those living with AIDS.

Previous treatment with ionizing radiation or certain chemotherapy drugs may slightly increase the chance of developing a sarcoma later in life. This is rare, and the benefits of cancer treatment almost always outweigh this risk.

Even when no clear cause is identified, changes in DNA can still occur throughout life. The body works continuously to repair these changes, but sometimes a harmful mutation slips through and allows cells to grow out of control. Learning about the specific genetic changes inside a sarcoma tumor can help guide treatment decisions and identify whether someone may be eligible for targeted therapies or clinical trials.

Sarcoma tumors vary widely in the number of genetic changes they carry. This is known as the tumor
mutational burden. A tumor with more mutations may respond differently to certain treatments. Understanding a tumor’s mutation profile helps doctors consider newer therapies and evaluate clinical trial options.

Approximately three-quarters of people diagnosed with sarcoma will be diagnosed with a type of soft tissue sarcoma. There are many types of soft tissue sarcoma. Some of those types are so rare that only a few cases will be diagnosed in the United States each year.

In their early stages, soft tissue sarcoma rarely show any symptoms. Because soft tissue is very elastic, tumors can grow quite large before they are felt as a lump or bump.

Pain may occur when a sarcoma starts to press on nearby muscles and nerves.

Imaging such as MRI scans, can help determine if a lump or mass has features consistent with a sarcoma.

The only way to make a definitive diagnosis of soft tissue sarcoma is through a biopsy, which is when either the entire tumor or a small piece of it is surgically removed for testing. This is best performed by a skilled surgeon who is very familiar with sarcoma, and who will take great care in not allowing the spread of cancer cells during initial biopsies.

Angiosarcomas

Most patients have no symptoms (i.e., are asymptomatic).

They will appear as a raised, purple area of skin that resembles a bruise, growing over time.

May be painful or bleed at the tumor site.

Can occur anywhere in the body, but most often in the skin, head, or neck.

Can be caused by “lymphedema”, which is swelling due to extra fluid (lymph) collecting in tissues, often in the arms and legs.

Other causes of these tumors include radiation exposure and/or exposure to chemicals, such as vinyl chloride, arsenic, and thorium dioxide.

Dermatofibrosarcoma Protuberans(DFSP)

Often starts as a small, firm patch of skin that can be various tones of purple or red.

Grows slowly over months to years and can become a raised nodule under the skin.

Typically affects people ages 20-50.

Women and African Americans are more at risk.

Scars formed from burns or surgery can be risk factors.

There are many subtypes of these tumors that are based on the type of cells found in the dermis layer. These subtypes include Bednar tumors, Myxoid Dermatofibrosarcoma Protuberans tumors, and Giant Cell Fibroblastoma.

Desmoid Tumor (AKA Aggressive Fibromatosis)

Most patients have no symptoms (i.e., are asymptomatic).

There may be pain or swelling or a lump where the tumor is located.

Can occur anywhere in the body, but most often are found in the abdomen, arms, shoulders or legs.

They can be slow or fast growing.

Desmoplastic Round Cell Tumor

Appears in the abdomen and pelvic area of the body.

No symptoms initially but leads to one or a combination of the following symptoms: nausea and vomiting, diarrhea, constipation, abdominal swelling, abdominal pain and difficulty urinating.

Most often occurs in white males between the ages of 10 and 30.  

Epithelioid sarcoma

Typically, it will appear as a small, painless, slow growing lump under the skin of a finger, hand, forearm, lower leg, or foot.

May be a sore or open wound that doesn’t heal.

Most commonly seen among teenagers and young adults.

More common in men than women (2:1),

Fibrosarcoma

Cancer that begins in the fibrous connective tissue located at the extremities of the arms or legs. 

May lead to limping or difficulty in using legs, feet, arms, and hands. 

The tumor cells at the primary sites frequently spread to nearby soft tissue. 

Can occur in children and adults. 

Infantile fibrosarcoma is the most frequent soft tissue sarcoma in children less than one year old. It presents as a growing mass at birth or soon after. This form has slower growth rate and is usually less aggressive than fibrosarcoma seen in older children.  

Gastrointestinal stromal tumor (GIST)

Symptoms vary based on size and location of tumors.

Small tumors may be asymptomatic while larger tumors may cause vomiting, GI bleeding, abdominal pain, nausea and weight loss.

Most commonly occurs in adults between the ages of 50 and 70, but can occur at any age.

Some association with rare genetic syndromes

Kaposi’s sarcoma

Appears as painless, purple-ish  spots on the legs, feet, or face.

Can also appear in genital areas, the mouth, lymph nodes, and, in severe cases, the digestive tract or lungs.

Is caused by an infection with a virus called Human Herpes virus 8 (HHV-8). 

Immune system damage or suppression (especially in patients with organ transplant or HIV/AIDs) allows the cells infected with HHV-8 virus to multiply and form tumors.

Leiomyosarcoma

Tumors located deep in the body that may not present with any symptoms until they grow larger or causing pressure in the space they are growing.

May appear as painless masses below the skin.

Uterine leiomyosarcoma may present with pain pressure, and abnormal uterine bleeding, similar to benign fibroids.

Accounts for 5-10% of all soft tissue sarcoma tumors.

No proven relation to any environmental exposures or lifestyle choices.

Genetic conditions (Hereditary Retinoblastoma and Li Fraumeni Syndrome) may predispose patients to Leiomyosarcoma cancer.

Liposarcoma

Can occur anywhere in the body, but are mostly found in the limbs, muscles and abdomen.

They are painless and slow growing so many patients may be symptom free (asymptomatic). 

 May appear as a growing lump under the skin of the arms or legs.

One of the most common soft tissue tumors mostly found in adults, but can occur at any age.

Some risk factors include exposure to chemical. carcinogens, previous ionizing radiation and chemotherapy treatments.

Malignant Peripheral Nerve Sheath Tumor (MPNST)

Symptoms vary based on the size and location of tumors.

May experience pain, numbness, weakness, or a burning/tingling sensation in the extremities at the tumor site.

Most commonly affects young and middle-aged adults.

50% of these tumors occurs in the setting of a genetic condition called Neurofibromatosis 1.

Myxofibrosarcoma

Slow-growing, painless lump on extremities, such as arms or legs, that extends deep into tissues.

Symptoms be different based on size and location of tumors.

Mostly occurs in people between the ages of 50 and 70.

Slightly more common in men than women.

Difficult to distinguish from other soft tissue sarcoma tumors, which can result in delayed diagnosis.

Rhabdomyosarcoma

May appear as a painless mass underneath the skin.

Are commonly found in the head and neck region, followed by the extremities, such as arms and legs.

 Mostly occurs in children and young adults, but can occur at any age.

Is associated with Neurofibromatosis, Li-Fraumeni, Beckwith-Wiedemann, and Costello syndromes.

Synovial Sarcoma

Slow growing, painless mass found in the arms or legs where the joints are formed. 

Masses may be painful if involving nerves.

Typically affects people ages 15-40, but can occur at any age.

No definite risk factors.

Has been associated with Chromosome 18 and Chromosome X Translocations.

Undifferentiated Pleomorphic Sarcoma

Appears as a lump in the extremities, such as arms or legs, and can also occur behind abdominal organs.

Although it can be found in either soft tissues or bone, it is considered a soft tissue tumor.

Formerly known as Malignant Fibrous Histiocytoma.

Typically affects older adults.

Previous ionizing radiation therapy is a risk factor.

Approximately 3,600 new cases of bone sarcoma cancers are diagnosed in the United States each year, accounting for less than 0.2% of all cancers.

Unexplained pain that does not go away, and/or a lump that may appear under the skin, are the most common symptoms of this type of cancer.

As a tumor gets bigger, it can cause a joint, such as the knee or elbow, to swell, often being mistaken for an injury instead of a bone tumor. These tumors can also weaken the bones, causing easy fractures.

A variety of imaging, such as X-Rays, CT scan or an MRI scan, can decide if a lump or mass is a bone tumor.
An orthopedic bone surgeon, who is very familiar with sarcoma cancers, should be consulted for a diagnosis and surgical and treatment plans.

Bone sarcomas are diagnosed by either removing the entire tumor or a small piece of it through a surgical biopsy.

Chondrosarcoma

May feel a hard lump under the skin, causing pain, swelling, or limited movement.

Usually starts in the long bones of the arms, legs, or pelvis, often near the joints.

Because it is a sarcoma of the cartilage, tumors are often found near the joints.

Typically affects adults between the ages of 20 and 60.

These tumors are commonly found in men more than women.

This type of sarcoma is associated with other conditions, such as Ollier’s Disease, Maffucci Syndrome, and Multiple Hereditary Exostoses.

Chordoma Sarcoma

Can occur anywhere within the spine and the base of the skull/brain, causing pain and nerve symptoms, including tingling, numbness and weakness.

Occurs most often in adults between ages 40 and 60, more in men than women.

Can be caused by some hereditary conditions, such as familial Chordoma and Tuberous Sclerosis Complex.

Ewing’s Sarcoma

May feel a lump under the skin causing pain, swelling, or limited movement.

Typically develops in the pelvis, ribs and long bones (femur, tibia, humerus).

Second most common type of bone cancer, behind Osteosarcoma.

Most often occurs in children and young adults between the ages of 10 and 20, but can also rarely occur in older adults.

Is more common in males than females.

Most cases involve a fusing of genetic material between chromosomes 11 and 22, causing the Ewing’s sarcoma gene (EWS) to be “turned on”.

Osteosarcoma

Can experience unexplained pain in an affected area, such as in the knee, which can cause a limp or similar disability.

Easy fractures can occur, due to the bone weakening by the tumor.

Most common tumor sites are found in the femur and tibia, both by the knee, and the humerus, near the shoulder.

Most common bone tumors.

Most commonly diagnosed in children and young adults, under the age of 25. 

Can also occur in older adults

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