Desmoid Tumors

Mesenchymal neoplasms known as desmoid tumors (DT) are thought to be locally invasive yet non-metastatic. They are also known as deep fibromatosis, musculoaponeurotic fibromatosis, and aggressive fibromatosis. They are locally invasive and significantly increase morbidity and death even though they do not metastasize.

The treatment of DT is difficult, and a multidisciplinary tumor board discussion is necessary (MTB). Surgery is the main form of treatment for DT, either with or without radiation therapy (RT). DTs have a high risk of local recurrence despite surgical resection; as a result, the World Health Organization has classified them as intermediate locally aggressive tumors.

The WHO describes DT as a "clonal fibroblastic proliferation that occurs in the deep soft tissues and is characterized by infiltrative development and a predisposition towards local recurrence but an inability to metastasis," even though it may be multifocal in the same limb or body part. Patients who cannot or will not be cured by surgery or radiation therapy are treated with systemic chemotherapy.

Desmoid Tumors: Causes

Desmoid Tumor's etiology is not known. The majority of DT cases are sporadic, and 85% have a mutation in the beta-catenin pathway encoded by CTNNB1. The three different mutations 41A, 45F, and 45 were found. Recurrence is quite likely in cases harboring mutation 45F. 45F, 41A, and no mutation all had 5-year recurrence-free survival rates of 23%, 57%, and 68%, respectively.

Familial adenomatous polyposis (FAP), primarily abdominal FAP caused by an APC gene mutation, is associated with an increased prevalence of desmoid tumors. The past surgical site is more likely to be the location of DT in FAP, and this is a risk factor. DT is a more significant source of morbidity and death in people who have undergone preventive colectomy than colon cancer.

Anecdotal data shows that abdominal wall injuries and high estrogen conditions may be the cause of DT, which happens in females more frequently during or after pregnancy. Overall, DT related to pregnancy has superior results.

Desmoid Tumors: Symptoms

Clinically, DT presents in a variety of ways, with a slow-growing tumor that can stabilize and even go into spontaneous remission. The rectus abdominal muscle, the head and neck area, the pelvis, and the extremities are typical sites of DT.

A possible role of the female sex hormonal milieu is suggested by the fact that DT is known to regress with menopause and to occur in connection with pregnancy and the use of oral contraceptives. Implants or surgery may be linked to breast desmoid. A history of trauma or surgery at the desmoid location exists in one out of every four patients. While DT cannot spread beyond the immediate region, it does tend to reoccur there and cause significant local devastation.

People with FAP have a substantially greater chance of acquiring DT than the general population (up to 25% higher). FAP can be identified in up to 5% of individuals with DT. While it can happen at any age, the late second decade of life has the highest prevalence.

Unless the tumor causes pressure sensations, the physical examination is often benign. As they can imitate cancer of the corresponding organ (a DT in the breast, for example, can mimic breast cancer), a biopsy is necessary to correctly identify a DT.

Desmoid Tumors: Risk Factors

The major risk factors include −

  • A young adult. Adults in their 20s and 30s are more likely than older individuals to develop desmoid tumors. Among elderly individuals and youngsters, this tumor is uncommon.

  • Colon polyps are frequently caused by a hereditary condition. Adenomatous polyposis (FAP) patients are more likely to develop desmoid tumors. A gene mutation that results in FAP can be handed down from parents to offspring. In the colon, it results in many growths (polyps).

  • Pregnancy. A desmoid tumor can very rarely develop during or right after pregnancy.

  • Injury. Desmoid tumors can occasionally develop in patients who have recently had surgery or an accident.

Desmoid Tumors: Diagnosis

To diagnose desmoids tumors, your doctor may suggest the following tests −

  • Exam of the body. To better understand your symptoms and indicators, your doctor will check your body.

  • Image-based exams. To develop images of the region where your symptoms are occurring, your doctor may advise imaging tests like CT and MRI. Your doctor may receive hints regarding your diagnosis from the photographs.

  • Removing a tissue sample for analysis (biopsy). Your doctor takes a sample of the tumor tissue and sends it to a lab for analysis to get a certain diagnosis. Depending on your specific circumstance, the sample can be taken surgically or with a needle for desmoid tumors.

Pathologists, medical professionals skilled in examining bodily tissues, evaluate the sample in the lab to identify the cell types present and gauge its propensity for aggression. Your therapy is guided by this information.

Desmoid Tumors: Treatment

Your doctor may prescribe the following treatments based on the severity of the condition −

  • Observing the tumor's development. Your doctor might advise keeping an eye on the tumor to see whether it grows if your desmoid tumor exhibits no symptoms or indicators. Every few months, you can be subjected to imaging testing. Some cancers don't spread and may never need to be treated. Without any sort of therapy, certain cancers may naturally decrease.

  • Surgery. Your doctor could advise surgery to remove the whole tumor plus a small margin of surrounding good tissue if your desmoid tumor produces signs and symptoms. Yet occasionally the tumor spreads to neighboring structures and cannot be eliminated. In certain situations, surgeons could try to get rid of the tumor in its entirety.

  • Radiation treatment. High-powered beams, including X-rays and protons, are used in radiation treatment to destroy tumor cells. If you are not in good enough condition for surgery or if the tumor is situated in a dangerous area, radiation treatment may be suggested instead of surgery. If there is a chance that the tumor may come back after surgery, radiation treatment may be employed.

  • Medicines and chemotherapy. Strong medicines are used in chemotherapy to destroy tumor cells. If your desmoid tumor is expanding fast and surgery is not an option, your doctor can suggest chemotherapy.

Anti-inflammatory medications, hormone therapy, and targeted therapies are a few more treatments that have shown potential in patients with desmoid tumors.

Desmoid Tumors: Prevention

An important factor in avoiding desmoid tumors is a healthy shift in food and lifestyle. An alkaline lifestyle and diet can help prevent and treat tissue acidosis, the growth of fibroblast cells, and desmoid tumors by naturally defending healthy tissues against metabolic or dietary acids.


The internist, nurse practitioner, or primary care physician may once in a while face desmoids. It is crucial to confer with an oncologist, a pathologist, and a radiologist because the diagnosis and therapy are complex.

Desmoids can be roughly classified into four categories for treatment: asymptomatic resectable, symptomatic resectable, unresectable, and recurring desmoids.

Surgery is the sole option for treating these lesions because radiation and chemotherapy typically do not work well on them. Recurrences are typical, nevertheless. Most patients have guarded prognoses.

Dr. Durgesh Kumar Sinha
Dr. Durgesh Kumar Sinha


Updated on: 26-Apr-2023


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