Definitions of Terms for Desmoid Tumor Patients and Caregivers
The following definitions are intended as lay explanations of terms that desmoid tumor patients and caregivers might run across in their journey. They are not intended to be complete medical definitions or to provide medical advice. Please consult with official medical resources and your health care practitioners for a complete and accurate explanation of terms that you seek to understand. Empower yourself with knowledge.
List of Terms
Active surveillance is the medical approach that carefully monitors a desmoid tumor through magnetic resonance imaging (MRI) or computed tomography (CT) scans to look for signs of progression or regression (shrinking).1 Active surveillance is the well-established primary approach to most primary/recurrent sporadic/familial desmoid tumors, depending on location. The decision to proceed with active surveillance is on a case-by-case basis and should be discussed with your doctor. You and your care team may decide to pursue treatment at any point due to progression of the tumor or your symptoms.
APC (Adenomatous Polyposis Coli)
APC is the acronym for the gene Adenomatous Polyposis Coli. “Mutations in the APC gene cause a group of polyposis conditions that have overlapping features including familial adenomatous polyposis[anchor link to FAP “Glossary” entry] (F.A.P) or Gardner syndrome which may include the development of desmoid tumors, ” (Source: National Organization for Rare Disorders (NORD))
Benign tumors (or nonmalignant tumors) do not metastasize, meaning they do not spread through the bloodstream or lymph system to other parts of the body. Because desmoid tumors do not metastasize, they are often referred to simply as “benign” which fails to take into account their potential to be locally aggressive and have a high rate of recurrence. The World Health Organization does not list desmoid tumors in the “benign” category, but rather designates them as “intermediate, locally aggressive.”
Beta-catenin is a protein that is coded by the CTNNB1 gene. It has many roles in the cell including cell-to-cell connections and regulating the expression of other genes. Mutation or overexpression of beta-catenin has been associated with cancers and tumors including hepatocellular carcinoma, colorectal carcinoma, lung cancer, desmoid tumors, and more.
“The removal of cells or tissues for examination by a pathologist. The pathologist may study the tissue under a microscope or perform other tests on the cells or tissue. There are many different types of biopsy procedures. The most common types include: (1) incisional biopsy, in which only a sample of tissue is removed; (2) excisional biopsy, in which an entire lump or suspicious area is removed; and (3) needle biopsy, in which a sample of tissue or fluid is removed with a needle. When a wide needle is used, the procedure is called a core biopsy. When a thin needle is used, the procedure is called a fine-needle aspiration (FNA) biopsy. (Source: National Cancer Institute)
Caregiver / Care Partner
“A person who gives care to people who need help taking care of themselves. Examples include children, the elderly, or patients who have chronic illnesses or are disabled. Caregivers may be health professionals, family members, friends, social workers, or members of the clergy. They may give care at home or in a hospital or other health care setting.” (Source: National Cancer Institute)
“A procedure in which the blood supply to a tumor is blocked after anticancer drugs are given in blood vessels near the tumor. Sometimes, the anticancer drugs are attached to small beads that are injected into an artery that feeds the tumor. The beads block blood flow to the tumor as they release the drug. This allows a higher amount of drug to reach the tumor for a longer period of time, which may kill more cancer cells. It also causes fewer side effects because very little of the drug reaches other parts of the body.” (Source: National Cancer Institute)
“Treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. Chemotherapy may be given by mouth, injection, or infusion, or on the skin, depending on the characteristics of the disease being treated. (Source: National Cancer Institute)
Clinical Trial / Clinical Trial Phase
A clinical trial is “a type of research study that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease. Also called clinical study.” (Source: National Cancer Institute)
A clinical trial phase is “a part of the clinical research process that answers specific questions about whether treatments or other interventions that are being studied work and are safe. Phase I trials test the best way to give a new treatment and the best dose. Phase II trials test whether a new treatment has an effect on the disease. Phase III trials compare the results of people taking a new treatment with the results of people taking the standard treatment [or a placebo].” (Source: National Cancer Institute)
Compassionate Use / Expanded Access Program
Compassionate use or expanded access is “a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available. Investigational drugs, biologics or medical devices have not yet been approved or cleared by the U.S. Food and Drug Administration (FDA) and FDA has not found these products to be safe and effective for their specific use. Furthermore, the investigational medical product may, or may not, be effective in the treatment of the condition, and use of the product may cause unexpected serious side effects.” (Source: U.S. Food and Drug Adminstration)
“A procedure in which an extremely cold liquid or an instrument called a cryoprobe is used to freeze and destroy abnormal tissue. A cryoprobe is cooled with substances such as liquid nitrogen, liquid nitrous oxide, or compressed argon gas. Cryoablation may be used to treat certain types of cancer and some conditions that may become cancer. Also called cryosurgery and cryotherapy.” (Source: National Cancer Institute)
CT Scan (Computed Tomography)
A procedure that uses a computer linked to an x-ray machine to make a series of detailed pictures of areas inside the body. The pictures are taken from different angles and are used to create 3-dimensional (3-D) views of tissues and organs. A dye may be injected into a vein or swallowed to help the tissues and organs show up more clearly. A computed tomography scan may be used to help diagnose disease, plan treatment, or find out how well treatment is working. Also called CAT scan, computerized axial tomography scan, computerized tomography, and CT scan.
Most desmoid tumors are associated with mutations in the CTNNB1 gene. Beta-catenin has many roles in the cell including cell-to-cell connections and regulating the expression of other genes. Mutation or overexpression of beta-catenin has been associated with cancers and tumors including hepatocellular carcinoma, colorectal carcinoma, lung cancer, desmoid tumors, and more. Most desmoid tumors are associated with mutations in the CTNNB1 gene.
DEE (intra-arterial doxorubicin drug-eluting embolization)
Doxorubicin Eluting Embolization (DEE), a type of trans-arterial chemoembolization (TACE), is a method to treat desmoid tumors by exposing the tumor to a high concentration of doxorubicin while minimizing the doxorubicin exposure to the rest of the body. In DEE a pharmacist will first mix doxorubicin with drig-eluting microparticles designed to soak up the drug in the bottle but release it in the body. The treatment is then performed by an Interventional Radiologist who will will make a tiny incision to allow the navigatation of a catheter into the arterial blood supply of the Desmoid tumor. Once in position, the doxorubicin loaded micro-beads are released into the tumor tissue and there they slowly elute the chemotherapy. The procedure is usually performed using local anesthesia and sedation, and takes a 2-3 hours. Patients typically undergone two to three procedures to treat the entire desmoid. Large and rapidly growing tumors may require more. DEE is usually offered after failure of at least one systemic therapy. Generally, DEE is performed for larger tumors (>5cm diameter) or smaller tumors if Cryoablation risks Neuro vascular injury.
DEE for Desmoid tumors was first described in 2018 (https://pubmed.ncbi.nlm.nih.gov/30075974/), with additional reports published in 2022 (https://pubmed.ncbi.nlm.nih.gov/36291829/ and https://pubmed.ncbi.nlm.nih.gov/35441242/). Following the promising results seen in these preliminary studies, a dedicated multi center prospective trial is in the works with sites at the Royal Marsden in London, LMU in Munich, University of Heidelberg, Italian National Cancer Institute in Milan and at Share Zedek Medical Center in Jerusalem. Other sites with experience in DEE include Hong Kong Childrens Hospital; Kids Cancer Center in Sydney and Memorial Sloan Kettering Cancer Center in NY.
Desmoid tumors (also known as aggressive fibromatosis, desmoid fibromatosis, and desmoid-type fibromatosis) are rare, locally invasive, soft tissue tumors that form in the connective tissues of the body. They can occur anywhere in the body. Common sites include the abdominal muscles, inside the abdomen, the head and neck area, trunk, breast, and the extremities.
Desmoid tumors do not have the ability to metastasize (i.e., spread through the blood or lymph system to other distant locations or organs), but in some rare cases, an individual can have more than one desmoid tumor (also called “multifocal”).1
Although desmoid tumors do not metastasize, they can be locally aggressive and severely damage surrounding tissues and vital structures as they grow. They also have a high rate of regrowth or “recurrence” after surgery, and should be monitored long-term in most cases.
For more information about diagnosis, treatment and pain management of desmoid tumors, patients and clinicians should consult the Global Consensus Paper published in the European Journal of Cancer (EJC) entitled “The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.”
Familial Adenomatous Polyposis (F.A.P.)
“Familial adenomatous polyposis (F.A.P.) is a rare inherited cancer predisposition syndrome characterized by hundreds to thousands of precancerous colorectal polyps (adenomatous polyps). If left untreated, affected individuals inevitably develop cancer of the colon and/or rectum at a relatively young age. FAP is inherited in an autosomal dominant manner and caused by abnormalities (mutations) in the APC[anchor link to APC entry in Glossary] gene. Mutations in the APC gene cause a group of polyposis conditions that have overlapping features: familial adenomatous polyposis, Gardner syndrome, Turcot syndrome and attenuated FAP.” (Source: National Organization for Rare Disorders (NORD))
“A fibroblast is a type of cell that contributes to the formation of connective tissue, a fibrous cellular material that supports and connects other tissues or organs in the body. Fibroblasts secrete collagen proteins that help maintain the structural framework of tissues. They also play an important role in healing wounds.” (Source: NIH National Human Genome Research Institute)
“The first treatment given for a disease. It is often part of a standard set of treatments, such as surgery followed by chemotherapy and radiation. When used by itself, first-line therapy is the one accepted as the best treatment. If it doesn’t cure the disease or it causes severe side effects, other treatments may be added or used instead. Also called induction therapy, primary therapy, and primary treatment.” (Source: National Cancer Institute)
Gamma-Secretase Inhibitor (γ-Secretase Inhibitor)
Gamma-secretase inhibitors (GSIs) are targeted treatments that selectively inhibit a protein called gamma secretase and reduce activation of a pathway that is believed to play a role in the growth of desmoid tumors. These medical therapies are pills that can be taken orally at home. GSIs were originally developed as Alzheimer’s therapies, but have been repurposed as anticancer agents given their inhibition of specific biological processes that are altered in cancer.
Research has shown that gamma-secretase inhibitors have shown benefit in desmoid tumors by shrinking or slowing down the growth and improving patient’s symptoms. As with all therapies, gamma secretase inhibitors can also cause side effects that can vary from person to person.
HIFU (High-intensity focused ultrasound)
“High-intensity focused ultrasound (HIFU) is a minimally invasive medical procedure that uses ultrasound waves to treat certain conditions, such as tumors, uterine fibroids and tremor. The very high-intensity and highly focused sound waves interact with targeted tissues in your body to modify or destroy them.” (Source: Cleveland Clinic)
“The edge or border of the tissue removed in cancer surgery. The margin is described as negative or clean when the pathologist finds no cancer cells at the edge of the tissue, suggesting that all of the cancer has been removed. The margin is described as positive or involved when the pathologist finds cancer cells at the edge of the tissue, suggesting that all of the cancer has not been removed.” (Source: National Cancer Institute)
“Metastatic cancer occurs when cancer cells break off from the original tumor, enter your bloodstream or lymph system and spread to other areas of your body.” (Source: Cleveland Clinic)
Morbidity refers to medical problems caused by a treatment. (Source: National Cancer Institute)
MRI (Magnetic Resonance Imaging)
“A procedure that uses radio waves, a powerful magnet, and a computer to make a series of detailed pictures of areas inside the body. A contrast agent, such as gadolinium, may be injected into a vein to help the tissues and organs show up more clearly in the picture. MRI may be used to help diagnose disease, plan treatment, or find out how well treatment is working. It is especially useful for imaging the brain and spinal cord, the heart and blood vessels, the bones, joints, and other soft tissues, the organs in the pelvis and abdomen, and the breast. Also called magnetic resonance imaging, NMRI, and nuclear magnetic resonance imaging.” (Source: National Cancer Institute)
Care to address pain and suffering.
Progression Free Survival (PFS)
“The length of time during and after the treatment of a disease, such as cancer, that a patient lives with the disease but it does not get worse. In a clinical trial, measuring the PFS is one way to see how well a new treatment works.” (Source: National Cancer Institute)
“Radiation therapy is a type of treatment that uses beams of intense energy to kill cancer cells. Radiation therapy most often uses X-rays, but protons or other types of energy also can be used.
The term “radiation therapy” most often refers to external beam radiation therapy. During this type of radiation, the high-energy beams come from a machine outside of your body that aims the beams at a precise point on your body. During a different type of radiation treatment called brachytherapy (brak-e-THER-uh-pee), radiation is placed inside your body.
Radiation therapy damages cells by destroying the genetic material that controls how cells grow and divide. While both healthy and cancerous cells are damaged by radiation therapy, the goal of radiation therapy is to destroy as few normal, healthy cells as possible. Normal cells can often repair much of the damage caused by radiation.” (Source: Mayo Clinic)
“A disease that affects fewer than 200,000 people in the United States. There are about 7,000 rare diseases. An estimated 25 million to 30 million Americans are living with a rare disease. The cause of many rare diseases is unknown, but they are often caused by changes in a person’s genes or chromosomes. Rare diseases are often more difficult to diagnose and treat than the more common diseases. Also called rare disorder.” (Source: National Cancer Institute)
RECIST (Response Evaluation Criteria in Solid Tumors)
Response Evaluation Criteria in Solid Tumors (RECIST) is “a standard way to measure how well a cancer patient responds to treatment. It is based on whether tumors shrink, stay the same, or get bigger. To use RECIST, there must be at least one tumor that can be measured on x-rays, CT scans, or MRI scans. The types of response a patient can have are a complete response (CR), a partial response (PR), progressive disease (PD), and stable disease (SD).” (Source: National Cancer Institute)
Learn about the DTRF Radiomics Working Group RECIST is currently required by the FDA in clinical trials to assess if a tumor is progressing, stable, or responding to treatment, RECIST is strictly measurement-based and does not factor in other positive indicators that do not involve changes in tumor size. Additionally, RECIST relies on certain measurements to monitor response — such as “longest dimension” — which may not accurately reflect the typical response of desmoid tumors to treatments. The DTRF Radiomics Working Group[link to “Radiology Working Group” page] is addressing this issue and defining other imaging features beyond RECIST that can be used to better evaluate desmoid tumor patient outcomes.
“Cancer that has recurred (come back), usually after a period of time during which the cancer could not be detected. Also called recurrent cancer.” (Source: National Cancer Institute) Recurrence can come after a therapeutic, non-surgical or surgical intervention.
For more information on recurrence in desmoid tumors, please read the Global Consensus Paper on Desmoid Tumor Treatment.
Cancer that does not respond to treatment. The cancer may be resistant at the beginning of treatment or it may become resistant during treatment. Also called resistant cancer. (Source: National Cancer Institute)
A type of cancer that begins in bone or in the soft tissues of the body, including cartilage, fat, muscle, blood vessels, fibrous tissue, or other connective or supportive tissue. Different types of sarcoma are based on where the cancer forms. For example, osteosarcoma forms in bone, liposarcoma forms in fat, and rhabdomyosarcoma forms in muscle. Treatment and prognosis depend on the type and grade of the cancer (how abnormal the cancer cells look under a microscope and how quickly the cancer is likely to grow and spread). Sarcoma occurs in both adults and children. (Source: National Cancer Institute)
“In medicine, the opinion of a doctor other than the patient’s current doctor. The second doctor reviews the patient’s medical records and gives an opinion about the patient’s health problem and how it should be treated. A second opinion may confirm or question the first doctor’s diagnosis and treatment plan, give more information about the patient’s disease or condition, and offer other treatment options.” (Source: National Cancer Institute)
For more information on second opinions and desmoid tumors, please watch our 2022 video “Getting the Most Out of Your Consultation and Treatment Plan with Dr. Candace Haddox.”
MRI is performed using a number of different sequences which highlight different types of tissue in the human body. One sequence, called “T2 weighted images,” highlights tissues which contain various amounts of water. Tissues with a high fluid (water) component are bright on T2-weighted images or “high signal on T2 weighted images.” Desmoid tumors contain active fibroblasts which have a component of fluid in their cells and extracellular spaces, and therefore, are high in T2 signal.
Desmoid tumors also contain collagen (which is produced by the fibroblasts). Collagen alone has very little water content, and therefore, is low in T2 signal. When desmoid tumors contain active fibroblasts in their early, growing stages they are called “cellular” desmoid tumors because they have a high proportion of cells and relatively less collagen. These cells and their large extracellular spaces are bright in T2 signal. However, when the fibroblasts regress over time, leaving mostly collagen behind, desmoid tumors become low in T2 signal and will no longer grow. Reducing the cellularity of desmoid tumors, and therefore, their growth potential, is one of the goals of systemic therapy, and can be monitored using MRI.
Tyrosine Kinase Inhibitors (TKI)
“A substance that blocks the action of enzymes called tyrosine kinases. Tyrosine kinases are a part of many cell functions, including cell signaling, growth, and division. These enzymes may be too active or found at high levels in some types of cancer cells, and blocking them may help keep cancer cells from growing. Some tyrosine kinase inhibitors are used to treat cancer. They are a type of targeted therapy.” (Source: National Cancer Institute)
Volumetric medical imaging, such as CT, magnetic resonance imaging (MRI), or digital breast tomosynthesis (DBT), helps retain the 3D nature of the body’s internal structures by stacking multiple cross-sectional images.