Diagnosis and Management: Soft Tissue Sarcoma

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Typical histology ranges from well-defined areas of spindle-shaped cells to poorly differentiated anaplastic spindle cells. Rhabdomyosarcomas are skeletal muscle tumors and are further subdivided into embryonal, alveolar, and pleomorphic subtypes. Embryonal histology ranges from primitive mesenchymal-appearing cells to highly differentiated muscle cells. Additionally, most patients have a truncating lesion in the NF1 gene on chromosome Histologically, these tumors have dense fascicles of spindle cells.

Previously, GISTs were classified as smooth muscle tumors and were not accounted for in the literature as a separate entity distinct from leiomyomas, leiomyoblastomas, and leiomyosarcomas. The most common mutation site is exon 11, with less common c-KIT gene mutations also occurring at exon 9 or Both size and mitotic rate help to predict the metastatic potential of the tumor.

Tumors less than 2 cm in size and having a mitotic rate of less than 5 per 50 high-power fields hpf have the lowest risk of metastases, while tumors greater than 5 cm and with more than 5 mitoses per 50 hpf have the highest rates of metastases. Skip to main content. Case-Based Review. These tumors can potentially form almost anywhere in the body. They often begin as a small growth or bump, and are usually painless. Sometimes, there are open sores on the skin above the tumor that may be mistaken for areas of infection.

Eventually, multiple growths or bumps may develop. Epithelioid sarcoma can move into nearby tissue and spread to other areas of the body. This type of sarcoma has a tendency to spread to lymph nodes. It often recurs after treatment. Malignant peripheral nerve sheath tumors These tumors arise in the protective lining that covers the nerves of the peripheral nervous system.

These are the nerves outside of the brain and spinal cord. They appear as a lump or mass and can develop throughout the body. They can cause pain, weakness or difficulty moving the affected body part. When they press up against compress nerves, they can cause a sensation of burning, tingling, or numbness in certain areas. They tend to recur after treatment. They may be associated with a rare genetic disorder called neurofibromatosis type 1 but can also occur without a genetic predisposition.

Myxofibrosarcoma This form of soft tissue sarcoma is usually found most often in the arms or legs. It begins as a slow-growing bump or bumps and can move into nearby tissue or spread to other areas of the body. They are usually painless. These tumors often recur after treatment. They usually develop in people over the age of 50 and occur slightly more often in men than women. It is one of the most common forms of sarcoma found in adult patients. Rhabdomyosarcoma One of the most common types of soft tissue sarcoma, these tumors usually develop from cells which have features related to striated muscle cells.

Striated muscle tissue is the muscle that is attached to the skeleton by tendons and is part of the voluntary muscle system. Rhabdomyosarcomas arise from cells within the developing fetus called rhabdomyoblasts. These are immature cells that grow into the cells that help to form skeletal and striated muscle. The head and neck area, the urinary system including the bladder, the arms and legs, and the reproductive system including the vagina, uterus, and testes are common sites of rhabdomyosarcoma development.

The signs and symptoms depend on where the tumor is located.


Rhabdomyosarcomas are the most common form of soft tissue sarcoma in children. They are far more common in children, but can sometimes occur in adults. Adults tend to have a faster growing form of the disorder. Solitary fibrous tumor These are individual, slow-growing tumors. Although they can develop almost anywhere in the body, they most often arise in the lining of the lungs pleura , pelvis, or the dura, which is the thick, outer layer of the three membranes meninges that cover and protect the brain and spinal cord.

These tumors tend to grow very slowly and go not cause any symptoms until they are very large. Most are noncancerous benign , but malignant cancerous tumors can develop. Synovial sarcoma This form of soft tissue sarcoma usually develops in the arms or legs, often near a joint but rarely, if ever, within a joint.

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It can also develop in the trunk or abdomen. They usually present as a small growth or lump and are sometimes associated with pain. Eventually, a synovial sarcoma can cause limitation in the movement of the nearby joint. Doctors do not know what type of cell causes a synovial sarcoma. There are called synovial sarcomas because the cells of the tumor were felt to resemble cells of the synovium, which is a layer of connective tissue that lines joints. They most often occur in young adults.

These tumors sometimes recur after treatment and are capable of metastasis. Undifferentiated pleomorphic sarcoma This is an aggressive form of soft tissue sarcoma that can develop in soft tissue or bone in any part of the body. These tumors tend to affect older adults in their 50s or older. They most often develop in the lower legs especially the thighs , the upper arms, behind the membrane that lines the abdomen and covers the abdominal organs retroperitoneum , and the main organs of the body, especially those of the abdomen viscera.

In childhood, they most often form in the head or neck. They usually grow quickly and often spread to other areas of the body, especially the lungs. They often cause pain or swelling in the affected area. They can recur after treatment. This form of soft tissue sarcoma was once referred to as malignant fibrous histiocytoma. As with many forms of cancer, the exact, underlying cause of soft tissue sarcoma is not fully understood.

What you should know about sarcoma

In most affected individuals, this cancer is thought to occur randomly, for no specific reason sporadically. Sporadic occurrence of cancer is thought to occur because of multiple factors acting together. This can include genetic and environmental factors. The specific cell that becomes cancerous differs depending upon the specific subtype of soft tissue sarcoma. In most instances, these changes in DNA are acquired during life and are not inherited, nor do soft tissue sarcomas tend to run in families, unless affected individuals also have a genetic cancer-predisposition syndrome.

Causes of soft tissue sarcomas

Changes variations in certain genes have been noted to occur in greater frequency in individuals with soft tissue sarcoma than in people without this form of cancer. Many soft tissue sarcomas are associated with reciprocal translocations.

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These translocations can involve oncogenes. Genes normally produce encode proteins that have several functions in the body. Oncogenes control cell growth. Reciprocal translocations can sometimes result in the abnormal fusion of two genes. Researchers believe that this abnormal protein product may contribute to the growth and spread of cancer in such instances. Some forms of soft tissue sarcoma are associated with a variation mutation in a single oncogene, which is believed to drive the growth of cancer.

An altered mutation oncogene may produce a protein that is ineffective, overproduced, or underproduced. Some forms of soft tissue sarcomas have a complex karyotype. Karyotype refers to the number and appearance of chromosomes in a person. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y.

Males have one X and one Y chromosome and females have two X chromosomes. A complex karyotype means that there are a few to several variations to the chromosome makeup e. Some sarcomas have neither chromosomal translocations nor complex karyotypes. Rather they have amplification of a gene such as MDM2 in dedifferentiated liposarcoma, deletions of genes or loss of gene function such as INI1 in epithelioid sarcoma.

The underlying, genetic factors associated with soft tissue sarcoma are very complex and more research is necessary for doctors to figure out the all of the genetic interactions that contribute to the development of these tumors.

Mini lecture on soft tissue sarcomas in dogs

Although the causes and genetic aspects of soft tissue sarcomas are not fully understood, several risk factors have been identified. Having a risk factor does not mean a person will definitely develop that disease, and people who do not have any risk factors can still develop the disease. Environmental factors that have been associated with soft tissue sarcomas include radiation therapy often to treat a different form of cancer and exposure to certain chemicals including vinyl chloride, arsenic, and thorium dioxide.

In certain forms, damage to the lymphatic system, specifically long-standing lymphedema swelling of the lymph vessels because of the abnormal accumulation of fluid , is a risk factor.

Symptoms of soft tissue sarcomas

Soft tissue sarcomas occur with greater frequency in people or families that have rare genetic cancer-predisposing syndromes such as hereditary retinoblastoma, Li-Fraumeni syndrome, neurofibromatosis type I, familial adenomatous polyposis FAP , tuberous sclerosis, nevoid basal cell carcinoma syndrome Gorlin syndrome or Werner syndrome.

These disorders are associated with specific genes that are shown to increase the risk of specific forms of cancer. These disorders can be inherited. People who have these disorders are more likely to develop a soft tissue sarcoma than the general population as a whole. Recent data has suggested genetics may play a greater role in the risk of developing a sarcoma than previously felt. Soft tissue sarcomas affect men and women and individuals of any age and every racial and ethnic group. This is a large group of tumors, but overall, they are still classified as rare disorders. Estimates to their frequency varies.

However, because rare diseases often go misdiagnosed or undiagnosed, determining their true frequency in the general population is difficult. Symptoms of the following disorders can be similar to those of soft tissue sarcomas.

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Comparisons may be useful for a differential diagnosis. Benign noncancerous tumors of the soft tissue must be differentiated from soft tissue sarcomas. These include benign fatty tumors called lipomas, benign tumors that are made up of blood vessels hemangiomas , benign tumors of the lymph vessels lymphangiomas , benign tumors of skeletal and heart muscle rhabdomyomas , benign tumors of the joint tissue tenosynovial giant cell tumor , and benign tumors of smooth muscle leiomyomas.

Smooth muscles are the muscles that respond without conscious thought like the muscle that lines the walls of the digestive tract. A diagnosis of a soft tissue sarcoma is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. A physical examination can reveal a mass or growth that can be painless. Clinical Testing and Workup A biopsy is the only way to definitively tell if a mass or tumor is a sarcoma. A biopsy is test where a piece of tissue is taken from the tumor and examined under a microscope.

This allows a special doctor called a pathologist to see the specific cells and characteristics of the tissue sample. Doctors can then distinguish a soft tissue sarcoma from other types of benign and cancerous tumors as well as determine the specific subtype of soft tissue sarcoma that is present. Additional testing of the tumor may involve specialized pathology techniques such as immunohistochemistry. Some tumors will be tested for specific genetic characteristics by either fluorescent in-situ hybridization FISH analysis or next generation sequencing.

Many doctors and medical centers recommend a core needle biopsy.

Diagnosis of soft tissue sarcoma - Canadian Cancer Society

A core needle biopsy is generally considered to be more accurate than fine needle aspiration. During a core needle biopsy, a wide, hollow needle is inserted into the mass or growth to take a piece of tissue. The needle is moved into and out of the tumor by a spring. A cylindrical-shaped piece of tissue called a core is removed.

Several cores are taken. Fine needle aspiration is another type of biopsy. It involves a thinner, hollow needle, which is inserted into the tumor to remove tissue. The needle is attached to a syringe, which is used to draw out aspirate a sample of tissue and fluid from the mass or tumor. Imaging techniques may be used before or after a biopsy is taken. Imaging techniques will be used to evaluate the size, placement, and extension of the tumor e. Conventional x-rays plain radiographs of the lungs are often recommended because the lungs are the most common site of spread metastasis with soft tissue sarcomas.

Some treatment centers recommend all newly-diagnosed individuals with soft tissue sarcoma in the arms and legs or trunk receive a chest x-ray or chest CT scan. Specialized imaging techniques are also used to help with the diagnosis or assessment of soft tissue sarcoma. These techniques can include magnetic resonance imaging MRI , computerized tomography CT scan , and ultrasound. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues including bone marrow and soft tissue.

During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures. An ultrasound uses reflected sound waves to create pictures of internal organs and other structures and are effective at detecting small areas of cancer that are near the surface of the body superficially located. An ultrasound may also be used to determine whether fluid is present in an unidentified mass. Another advanced imaging technique known as positron emission tomography or PET scan may also be used.

During a PET scan, a radioactive sugar is injected into the body. This sugar will collect in areas of the body where there is a higher demand for energy. Tumors require a lot of energy to keep growing and spreading, and will soak up the radioactive sugar. When the x-ray scan is taken, areas that take up the radioactive sugar including soft tissue sarcomas may show up as bright spots on the film.

A PET scan is often used to help show whether a soft tissue sarcoma has spread or how well it is responding to treatment. The therapeutic management of individuals with soft tissue sarcoma may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer in children pediatric oncologists , oncologists, physicians who specialize in the treatment of cancer with radiation radiation oncologists , physicians who specialize in examining tissues and cells to find disease and determine what disease is present pathologists , surgeons who specialize in removing cancer by surgery oncology surgeon or orthopedic oncology surgeon , nurses who specialize in the car and treatment of cancer oncology nurses , psychiatrists, nutritionists, and other healthcare specialists.

Psychosocial support for the entire family is essential as well. Several organizations have released guidelines for the surveillance, screening and treatment of soft tissue sarcoma. The National Comprehensive Cancer Network NCCN guidelines are one of the most commonly used and the organization provides a booklet geared toward patient explaining these guidelines.

It is recommended that individuals with soft tissue sarcoma be seen by a physician or team of physicians with experience with these disorders. In the United States, there are Sarcoma Centers, which are medical centers and hospitals that specialize in the diagnosis and treatment of people with soft tissue sarcoma. At a Sarcoma Centers, patients will be seen by a medical team of specialists with experience with these types of tumors.

The three main treatments used for soft tissue sarcoma are surgery, chemotherapy, and radiation therapy. Surgery involves removing resecting the entire tumor and a small amount of surrounding healthy tissue to ensure all of the cancer is eliminated. Tumors affecting the arms and legs are treated by limb-sparing surgery, if possible, which is designed to remove the tumor, but preserve the function of the limb as well as the physical appearance of the limb.

Chemotherapy is the use of certain medications to slow down or stop the growth of cancer cells. Cancers cells grow and divide rapidly, which makes them susceptible to chemotherapy medications. In soft tissue sarcoma, chemotherapy may be used to treat affected individuals. Sometimes, it is used along with a primary form of treatment, usually surgery. This is called neoadjuvant or adjuvant therapy. When used along with surgery, chemotherapy may be given before surgery neoadjuvant to shrink a tumor or following surgery adjuvant to eliminate any remaining cancer cells and lessen the risk of a recurrence.

Sometimes, chemotherapy may be given before and after surgery. Different combinations of medications may be used; this is called a chemotherapy regimen. When chemotherapy is given, the specific chemotherapy regimen used can vary. Different medical centers may have their own preferences as to the best way to approach treatment and what chemotherapeutic regimen is best for each individual.

Radiation therapy is the use of high doses of radiation to kill cancer cells and shrink tumors.

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