Sarcoma Diagnosis

Overview

There are no effective screening tools or ways to prevent sarcoma. While the majority of suspicious masses discovered are benign, we recommend that any questionable mass be evaluated by your primary care physician. Any unusual bone lesion should be evaluated by an orthopedic surgeon.

At initial presentation, sarcoma may be asymptomatic; symptoms may not present until the cancer has progressed. To provide a diagnosis of sarcoma, a specialist will perform a physical examination and imaging studies, such as an MRI, CT or a bone scan (if it involves the bone) to assess if the disease has spread.

Pathologic Diagnosis

A tissue diagnosis is necessary in order to determine the type or origin of tumor (for example, a tumor of muscle, bone, nerves or fat), the subtype of tumor, its aggressiveness or “grade” (for example, high grade versus intermediate or low grade) and additional tumor characteristics that assist in predicting behavior and prognosis. A precise subtype diagnosis can change the treatment approach.

Tumor tissue is first examined under the microscope by a pathologist with expertise in sarcomas. After microscopic examination, additional special studies are performed including immunophenotyping (identification of the types of proteins a tumor expresses by means of antibody reactions), molecular studies (analysis of small segments of DNA or RNA using in situ hybridization or polymerase chain reaction) and chromosome analysis. When clinically indicated, high throughput genomic sequencing can used for the purpose of both sarcoma categorization as well as potential therapeutic considerations. Once the pathologist completely analyzes the tumor, members of the multidisciplinary team can then discuss optimal treatment for the patient.

Genetic Testing

Most cases of sarcoma are sporadic (not hereditary); however, sarcoma can be associated with hereditary cancer susceptibility genes in some families. If, in addition to sarcoma, there is a personal or family history of pre-menopausal breast cancer, brain cancer, or of the childhood tumors adrenal cortical carcinoma or choroid plexus carcinoma, then genetic counseling is indicated and genetic testing is available. Hoag offers its Hereditary Cancer Program to the community – a comprehensive genetic counseling and testing program, led by certified genetic counselors and physician leadership. Contact us to see if this may be the right option for you or your family.

For more information, or to contact the Hoag Sarcoma Program Clinic, please call 949-764-5542.