TEST CODE: 008860

DIAGNOSTIC TEST FOR: SARCOMA PANEL

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Sarcoma Panel

Although relatively rare, sarcomas can occur anywhere in the body and arise in the connective tissues such as bone, muscle, tendons, nerves, fat, cartilage and blood vessels.

Types of Sarcomas

Soft Tissue Sarcoma

Soft tissue sarcomas tend to develop in fat, muscle, blood vessels, lymphatic vessels, nerves, tendons and cartilage. There are more than 50 types of soft tissue sarcomas and they are typically differentiated based on the type of soft tissue they form in. They can occur almost anywhere in the body, however they most commonly occur in the head, neck, arms, legs, trunk, and abdomen.

In adults, the most common types are:

– Undifferentiated pleomorphic sarcoma (UPS) –an aggressive type of soft tissue sarcoma. UPS most commonly occurs in the arms and legs, and sometimes in the abdomen. It has a high incidence of recurrence and metastasis.

– Leiomyosarcoma – a malignant tumour of the smooth muscle. It most commonly occurs in small intestine, and can also occurs in the limbs, abdomen and uterus.

– Liposarcoma– a tumour that arises from fat cells, an occurs most commonly in the thighs and abdominal cavity.

– Angiosarcoma– a malignant tumour that occurs in the blood vessels or lymphatic vessels and can occur anywhere in the body. Lymphedema and/or previous radiation exposure or treatment are thought to be causes of angiosarcoma.

– Malignant peripheral nerve sheath tumour – a tumour that arises in the lining of nerves, often in the deep tissue of the arms, legs and trunk.

– Fibrosarcoma– occurs in cells known as fibrocytes, which make up the tissue that joins muscles and bones.

– Gastrointestinal stromal tumour– a common type of soft tissue sarcoma that starts in the digestive tract, mostly commonly the stomach and small intestines.

In children, the most common types are:

– Rhabdomyosarcoma– the most common type of soft tissue sarcoma in children. It can begin in many places in the body and forms in the soft tissues in a type of muscle, known as striated muscle.

– Synovial sarcoma– common in children and teenagers, and usually forms in tissue around the joints in the arms and legs. It can also form in the trunk, head or neck.

Primary Bone Sarcoma

Primary bone sarcoma begins in the bone. It is different from bone metastases, which occur when advanced cancer in other organs, such as the lungs, spreads to the bones. Bone sarcomas are more common in children and teenagers than in older adults. They include:

– Ewing Sarcoma– usually occurs around bones in the trunk, such as the pelvis, scapula and ribs, or in the middle of long bones such as the femur.

– Osteosarcoma-is the most common primary bone cancer, usually occurring at the ends of the long bones, especially around the knees

Why Should I have Genomic Testing done?

Cancer is a complex disease, caused by a wide range of genetic mutations that can be present in many combinations.  Each tumour has a unique genetic makeup, even amongst cancers of the same tissue type. Genomic testing can be used to analyse the DNA of your tumour and may identify the genetic mutations that are unique to your cancer. Due to their rarity and heterogeneity, sarcoma diagnosis can be challenging, and they are often misdiagnosed. However, an increasing number of specific gene abnormalities, such as chromosomal translocations, gene mutations, gene amplifications and gene fusions, are being identified in Sarcomas.

Identifying the abnormalities specific to your Sarcoma is the key to an accurate diagnosis and developing a personalised treatment plan. Depending on the type of testing done, a comprehensive genomic analysis can provide information on potential therapeutics, development of resistance to treatments, prognosis, disease tracking, and may provide access to clinical trials or new treatments that were not available at the time of diagnosis. Clinical trials have shown that personalised therapies, developed from genetic testing of tumours, are the most effective way to improve treatment outcomes. Patients undertaking therapy as a result from genetic testing are shown to have higher response rates to treatment and overall greater survival rates. Investing in genomic testing to obtain a complete and accurate diagnosis, is a small cost compared to the time and money that may be wasted on generic or ill-chosen therapies. 

What is included on the Sarcoma Panel?

The Sarcoma Panel is a targeted sequencing assay that simultaneously detects and identifies fusions of 26 genes associated with soft tissue cancers.