Empowering Sarcoma Treatment Decisions through Genomic Profiling of Tumor Tissue: A Collaborative Approach with Patients and Their Families

Comprehensive Insights into Diagnostic Approaches for Managing this Disease:

Tests For Diagnosis

The following tests and procedures may be used to detect and diagnose soft tissue cancer: 

Medical History and Physical Exam: 

By now you will have had discussions with your oncologist about your medical history, any recent illnesses, injuries, new symptoms of note, medications you are taking, and family history information.

Blood Tests:

Tests are not used to diagnose soft tissue sarcoma, but rather for signs of disease and assessment of your general health. Blood tests may be used to assess the response to drug treatment.  Abnormal levels of certain chemicals in the blood can also be an assessment of the cancer having spread elsewhere in the body.

Comprehensive Metabolic Panel:

A comprehensive metabolic panel may involve testing up to 14 different chemicals in your blood. Deviations from normal levels can be indicative of cancer or other health concerns. This panel assesses chemicals originating from various organs, including the liver and bones.

Complete Blood Count and Differential (CBC):

CBC measures the quantity of different blood cells present in a blood sample, including white blood cells.

Physical Examination:

A comprehensive physical examination will be conducted to detect any signs of disease, such as lumps or other abnormal findings. A lump or bump should not be dismissed but rather evaluated to rule out the possibility of it being a form of sarcoma – information briefs on this topic:



Imaging Tests for Leiomyosarcoma


Computed tomography (CT) scan:

Employed to investigate the suspected area for the presence of tumors and to ascertain whether the cancer has extended beyond its initial origin.

A non-invasive, painless technique utilizing X-ray imaging to peer inside the body. Multiple images taken from various angles generate cross-sectional images of soft tissue, organs, blood vessels, and bones. These digital images can be amalgamated to construct three-dimensional representations.

Magnetic Resonance Imaging (MRI) Scan:

Utilized to capture intricate, detailed images of the body’s internal structures.

PET-CT Scan (Positron Emission Tomography Combined with CT):

This diagnostic modality combines a PET scan with a CT scan to discern potential cancer cell presence. During the examination, a mildly radioactive substance, in conjunction with a glucose solution, is administered. Cancer cells exhibit a swifter glucose absorption rate compared to healthy cells, making them discernible on the PET scan.

Ultrasound Imaging:

This method employs sound waves to produce visual representations of organs, veins, and arteries.

Needle Biopsy or Incisional Biopsy:

Involves the collection of tissue samples either via a needle or through a surgical incision in the skin, which are subsequently examined for the presence of cancer cells.


Utilizes X-rays to examine blood vessels and assess blood flow, detecting potential blockages or leaks. A contrast agent is introduced through a catheter (a slender, flexible tube) to evaluate the condition of the blood vessels. It’s worth noting that this procedure may result in some soreness, and it is advisable for your doctor to provide a thorough explanation of the process beforehand.

Treatments for Leiomyosarcoma:


This involves tumor resection, a surgical procedure to remove the tumor along with a wide margin of healthy tissue around it. This margin is extended beyond the tumor to minimize the chances of recurrence. Surgery, with an emphasis on achieving a broad margin, has historically proven to be the most effective and preferred method of treating leiomyosarcoma. However, if surgical margins are narrow or not completely clear of tumor, or in cases where tumor cells remain, chemotherapy or radiation therapy has demonstrated survival benefits. While leiomyosarcoma often exhibits resistance to radiation and chemotherapy, it’s important to recognize that each case is unique, and outcomes can vary significantly. 

Radiation Therapy:

Radiation therapy is employed in some cases of leiomyosarcoma to target the tumor and destroy cancer cells while striving to preserve the function of nearby organs.


Chemotherapy drugs, such as gemcitabine-docetaxel, are commonly used to combat and eradicate leiomyosarcoma cells. Other drugs, like trabectedin, may also be considered. Multiple drug options and combinations exist, and discussing these choices with a sarcoma specialist is advisable.


Targeted Drug Therapy:

Targeted drug therapy is designed to address specific molecular characteristics of the cancer. Pazopanib, an oral therapy approved for leiomyosarcoma, is frequently utilized in conjunction with chemotherapy and/or radiation therapy as part of a comprehensive leiomyosarcoma treatment strategy.



Immunotherapy is an innovative treatment approach that harnesses certain aspects of the body’s immune system to combat cancer. While it is on the horizon for leiomyosarcoma, further research and development are required to establish its efficacy in treating this particular type of cancer.


Medical Terminology Resource: A Cancer Glossary for Your Reference

The National Cancer Institute (NCI) provides a comprehensive guide encompassing over 8,000 cancer-related terms. The NCI Dictionary serves as a user-friendly resource, aiding patients and their families in enhancing their understanding of complex medical articles. These articles often contain intricate medical terminology that can pose significant challenges. Utilize this resource to access and decipher medical and cancer-related terminology more effectively, reference the NCI Dictionary of Cancer Terms.

Clinical Circulating Tumor DNA Testing for Precision Oncology


ctDNA testing requires a minimum safety resolution through clinical validation to ensure its clinical utility. The testing requires cooperation between multi-disciplinary experts to provide meaningful and reliable results. Establishing a proper clinical validation guideline for ctDNA will enable access to better cancer treatment and reliable testing in the future. 

Research results suggest that ctDNA, assayed by a widely available sequencing approach, may be useful as a biomarker for a subset of patients with uterine and extrauterine LMS. Higher levels of ctDNA correlate with tumor size and disease progression. Liquid biopsies may assist in guiding treatment decisions, monitoring response to systemic therapy, surveying for disease recurrence, and differentiating benign and malignant smooth muscle tumors.

LMS is frequently a clinically aggressive disease, and patients are at high risk for local and metastatic relapse after initial complete resection. 9,10  Efforts to improve outcomes for patients would benefit from more reliable indicators of high-risk disease and biomarkers of response to therapy.

There are several potential clinical uses of ctDNA in the diagnosis and management of patients with LMS. First, ctDNA may be able to differentiate benign smooth muscle neoplasms, such as leiomyoma, from LMS. This knowledge would principally inform surveillance of suggestive lesions and considerations of operative strategies for uterine tumors that could potentially harbor LMS. 32  Second, there is significant clinical uncertainty regarding which patients with LMS derive benefit from adjuvant chemotherapy and radiation.  Should ctDNA levels bear prognostic significance for tumors that are at highest risk of recurrence or identify the presence of residual disease, their measurement may help guide clinical decisions regarding adjuvant therapies. Finally, ctDNA levels may be a useful indicator of response to systemic therapy and provide an early indication for switching or intensifying treatment regimens used in this disease.  Together with technologic improvements in sensitivity and throughput, these initial reports that identify ctDNA in LMS may quickly evolve to transform clinical practice.

– Dr. Matt Hemming, UMASS General Hospital, Worster, Mass. (2019)

Assessing Circulating Tumor DNA: Current Status and Future Prospects in Sarcoma Research

Panel includes Dr. Nam Quoc Bui, Dr. Brian Compton, Dr.
Elizabeth Davis, Dr. Erlinda Maria Gordon, Dr. Matthew Hemming, Dr. Elise Nasif,
Dr. Joanna Pryzbyl, Dr. David Schulman and Dr. Jonathan Trent. (2023) Video
panel presentation: https://www.youtube.com/watch?v=fhsyH8bJn_I