Diagnosing Sarcomas: The Need for Non-Invasive Diagnostic Tests

One thing that is eminently clear after reading Sarah Salem-Robinson's article "Are Routine, Minimally Invasive Surgeries for Fibroids Safe?" in this issue of ESUN is that the ability to pre-operatively diagnose the existence of a cancerous mass would be of enormous benefit to the patient and her gynecological team when considering the use of morcellator surgical devices. This is true because, as Salem-Robinson points out in her article, "For many women, minimally invasive surgeries are safe; however, when a "presumed fibroid" is broken up inside the abdomen by a morcellator device, the end result can be a significant clinical problem if the mass turns out to be an unsuspected uterine cancer, such as a uterine leiomyosarcoma. When morcellation is used on a malignant mass, there is a risk that it will spread cancer cells inside the woman's abdominal and pelvic cavity."

Video: Biopsy for Sarcoma

There are over sixty different subtypes of bone and soft-tissue sarcoma. To the best of my knowledge, there does not exist a non-invasive method to definitively diagnose any of them. That is, there are no salvia, urine, stool or blood tests that can be used to diagnose a sarcoma. Tissue samples, obtained from either a biopsy or from an excised tumor, must be analyzed by a skilled pathologist who specializes in these rare cancers in order to render a diagnosis.

While the symptoms a patient presents with and the associated medical history and results from a physical examination and various imaging tests (x-rays, CT scans, MRI scans, PET scans and ultrasound images) may suggest to an oncological team the diagnosis of a sarcoma, it can only be confirmed by a pathologist’s analysis of tissue samples. Because sarcomas are rare cancers and many physicians may only encounter one or two sarcomas in their lifetime, a diagnosis of a possible sarcoma isn’t the first thing which “springs to mind” when examining a patient, ordering tests and developing a treatment plan. It is not surprising then that sarcomas are often misdiagnosed. This leads, in some cases, to a surgery to remove a mass thought to be benign only to find out that a cancerous tumor, sometime a sarcoma, has been discovered.

Video: The Pathologist's Role in Cancer Care

The treatment plan, involving the use of chemotherapy, radiation, surgery or some combination of them, varies with the specific subtype of sarcoma. The duration and intensity of sarcoma treatments can be overwhelming and disheartening to patients and their families, and coping with the side effects of treatments can be a difficult challenge. There is an urgent need not only to develop non-invasive diagnostic tests for sarcoma, but tests that will identify specific bone and soft tissue subtypes. Such tests will reduce the number of misdiagnosed sarcomas and “oops” surgeries and aid the oncological team in developing an appropriate treatment plan for the patient.