Desmoid tumor

What is a desmoid tumor

Desmoid tumor also known as desmoid fibromatosis or aggressive fibromatosis is an abnormal growth that arises from connective tissue that contains fibroblast or myofibroblast cells, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, fascia and muscles ¹, ², ³, ⁴, ⁵, ⁶, ⁷, ⁸. The term “desmoid” is from the Greek word “desmos,” which means band or tendon, to illustrate the band- or tendon-like consistency of the tumor ⁵. According to World Health Organization (WHO), desmoid tumor is a “clonal fibroblastic proliferation that arises in the deep soft tissues and is characterized by infiltrative growth and a tendency toward local recurrence but an inability to metastasize”, even though it may be multifocal in the same limb or body part ⁹. Typically, a single tumor develops, although some people have multiple tumors. Desmoid tumors can occur anywhere in your body. Desmoid tumors that form in your abdominal wall are called abdominal desmoid tumors; those that arise from the tissue that connects the abdominal organs are called intra-abdominal desmoid tumors; and desmoid tumors found in other regions of your body are called extra-abdominal desmoid tumors. Extra-abdominal desmoid tumors occur most often in the shoulders, upper arms, and upper legs.

Desmoid tumors are fibrous, much like scar tissue ¹⁰, ¹¹, ¹². Desmoid tumors are generally not considered cancerous (malignant) because they do not spread to other parts of the body (metastasize); however, they can aggressively invade the surrounding tissue, extend along fascial planes, attach to and erode bones, and compress and engulf vessels, nerves, and other hollow organs and can be very difficult to remove surgically ¹³, ³, ¹. Desmoid fibromatosis often recur, even after complete removal ¹⁴.

The most common symptom of aggressive fibromatosis or desmoid fibromatosis is pain. Other signs and symptoms of desmoid tumors, which are often caused by growth of the tumor into surrounding tissue, vary based on the size and location of the tumor. Intra-abdominal desmoid tumors can block the bowel, causing constipation. Extra-abdominal desmoid tumors can restrict the movement of affected joints and cause limping or difficulty moving the arms or legs.

Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year ¹⁵. In Finland, the estimated incidence of aggressive fibromatosis is less than 4 cases per 1,000,000 population per year ¹⁶. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis.

Desmoid tumors occur frequently in people with an inherited form of colon cancer called familial adenomatous polyposis (FAP). These individuals typically develop intra-abdominal desmoid tumors in addition to abnormal growths called polyps and cancerous tumors in the colon. Desmoid tumors that are not part of an inherited condition are described as sporadic.

Generally, desmoid tumors can be classified into 2 categories based on their genetics:

Sporadic desmoid tumors are associated with mutations in the catenin beta 1 (CTNNB1) gene which codes for beta-catenin. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis (FAP).
Associated with adenomatous polyposis coli (APC) gene mutations — tumors occurring as part of syndromic conditions such as in patients with a family history of desmoid tumors, known familial adenomatous polyposis (FAP) or Gardner syndrome.

Other proposed risk factors for desmoid tumor development include trauma, recent surgery, and high estrogen states.

Because of its rarity, desmoid tumor may be misdiagnosed in as many as 30%–40% of cases, resulting in inappropriate or delayed care ¹⁷, ¹⁸. In one study, the time from patient‐reported symptom onset to desmoid tumor diagnosis exceeded one year for 54% of patients ¹⁹.

Standard treatment for aggressive fibromatosis or desmoid fibromatosis ranges from active surveillance for asymptomatic lesions to surgery, radiotherapy, and systemic therapies such as nonsteroidal anti-inflammatory drugs (NSAIDs), anti-estrogens, and tyrosine kinase inhibitors (TKI) ². Since desmoid tumors do not spread (metastasize), many approaches are nonoperative in nature ²⁰. Many cases of desmoid tumors may remain stable or even regress spontaneously, active observation and regular follow-up are often the initial management approach ²¹, ²². However, the most successful primary treatment modality for desmoid tumor in patients with active symptoms (ie, volumetric progression and compression symptoms) is surgery with negative surgical margins ²². Positive margins after surgery reflect a high risk for recurrence ²³. Surgery plus the administration of nonsteroidal anti-inflammatory medication (NSAIDs), hormonal therapy, targeted biologics, and cytotoxic chemotherapy is sometimes used for patients with rapidly growing tumors or where surgery would be inappropriate ²⁴. Radiotherapy (radiation therapy) is a second-line option where surgery is contraindicated or an adjuvant (add-on) therapy in post-surgical patients with positive margins on initial resection.

Most (~85 percent) desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person’s lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either the CTNNB1 or the APC gene can cause sporadic desmoid tumors.

Familial desmoid tumor cases (about 5-10 %) are associated with an inherited form of colon cancer called familial adenomatous polyposis (FAP). An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis (FAP) and predisposes affected individuals to develop desmoid tumors. The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. Patients with mutations in the APC gene are predisposed to forming hundreds of polyps in the intestines and go on to develop colon cancers. Patients with familial adenomatous polyposis (FAP) are often recommended to undergo surgical removal of their intestines. These patients are at a very high risk of developing intra-abdominal desmoid tumors which can arise deep in the abdomen or in the abdominal wall in addition to abnormal growths (called polyps) and cancerous tumors in the colon. In older scientific literature, the combination of FAP and desmoid tumors is termed Gardner’s Syndrome or the condition is sometimes called hereditary desmoid disease.

In some rare cases, desmoid tumors can occur in women who are pregnant. This happens during pregnancy or after a surgical delivery. Many believe that this is caused by a combination of elevated hormones and surgery, however, there is no strong scientific evidence to support this claim. The relationship between pregnancy and desmoid tumors is very rare and consists of mostly anecdotes in the scientific literature.

Other names for desmoid tumor

aggressive fibromatosis
deep fibromatosis
desmoid fibromatosis
familial infiltrative fibromatosis
hereditary desmoid disease
musculoaponeurotic fibromatosis

Figure 1. Abdominal desmoid tumor

Figure 2. Intra-abdominal desmoid tumor

Figure 3. Desmoid tumor (aggressive fibromatosis) MRI

Footnotes: (A) T1‐weighted and (B) T2‐weighted fat‐suppressed magnetic resonance images (MRI) in the coronal plain of a 28‐year‐old woman with a large desmoid tumor (aggressive fibromatosis) in the shoulder region (straight arrows). The curved arrow indicates a nodular protrusion that raises concern for pleural invasion. (C) Axial, contrast‐enhanced computed tomography image from a 27‐year‐old woman with a nonresectable, solitary intra‐abdominal aggressive fibromatosis not associated with familial adenomatous polyposis. An arrow indicates a large, well defined mass adherent to the small bowel and mesenteric vessels. (D) Transverse ultrasound of a sporadic right paraspinal musculature extra‐abdominal desmoid tumor in a 26‐year‐old woman. Linear fascial extension (tail sign) is indicated by the arrow.

[Source ²¹ ]

Figure 4. Aggressive fibromatosis arm MRI

Footnotes: (Left) This MRI shows an extra-abdominal desmoid tumor in the arm. (Right) This MRI shows the same tumor in a cross-section view.

[Source ²⁵ ]

Who gets desmoid tumors?

Desmoid tumors or aggressive fibromatosis are rare, affecting an estimated 1 to 2 per 500,000 people worldwide ²⁶. In the United States, 900 to 1,500 new cases are diagnosed per year ²⁶. Typically, desmoid tumors affect young adults between the ages of 35 to 40 years and are more common in women.

Desmoid tumors may develop in 5 to 10% of patients with an inherited form of colon cancer called familial adenomatous polyposis (FAP) and in patients with conditions related to adenomatous polyposis coli (APC) gene mutations.

Can my desmoid tumor be inherited or passed down to my children?

Yes. Generally, desmoid tumors can be classified into 2 categories based on their genetics:

Sporadic desmoid tumors are associated with mutations in the catenin beta 1 (CTNNB1) gene which codes for beta-catenin. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis (FAP).
Associated with adenomatous polyposis coli (APC) gene mutations — tumors occurring as part of syndromic conditions such as in patients with a family history of desmoid tumors, known familial adenomatous polyposis (FAP) or Gardner syndrome.

How do I know if my desmoid tumor is going to be cured?

Complete surgical excision of desmoid tumor or aggressive fibromatosis is the most effective method of cure. This sometimes necessitates removal of most of an anterior compartment of a leg. Extensive cases may require excision plus adjuvant (add-on) treatment including chemotherapy and repeat surgery ²⁷. Positive margins (incomplete resections) after surgery reflect a high risk for recurrence ²⁸. Surgery plus the administration of nonsteroidal anti-inflammatory medication (NSAIDs), hormonal therapy, and cytotoxic chemotherapy is sometimes used, the latter being the most effective pharmacological approach ²⁹. In selected patients, radical resection with intraoperative margin evaluation by frozen sections followed by immediate mesh reconstruction may be a safe and effective procedure providing definitive cure yet minimizing functional limitations ³⁰.

I have desmoid tumor can I get pregnant?

Desmoid tumors can be more complex in pregnancy – a combination of hormonal signalling, trauma, and mechanical constraints may worsen symptoms during this time. Pregnant patients need to be managed in experienced centers with multi-disciplinary team.

Desmoid tumor survival rate

Local recurrence occurs in around 70 percent of cases. Prognosis depends on the type of tumor. Life expectancy is normal for abdominal and extra-abdominal tumors. However, it is lower in cases of intra-abdominal desmoid tumors due to complications such as intestinal obstruction, hydronephrosis or sepsis. Repeated surgical resections are associated with a greater risk of morbidity.

Desmoid tumor life expectancy

Desmoid tumors were treated surgically in 495 patients (between July 1, 1982, and November 1, 2011 with a median follow-up 60 months) at the Memorial Sloan Kettering Cancer Center. Of 439 patients undergoing complete gross resection, 100 (23%) had recurrence. Of 439 patients undergoing complete gross resection, 100 had recurrence. Among these, 92 (92%) had their recurrence within 5 years. Five-year local recurrence–free survival was 69% (Figure 5) ³¹.

Size of the patient’s primary desmoid tumor was associated with outcome. Desmoid tumors over 10 cm in largest diameter were associated with 5-year local recurrence–free survival rates of 57% compared to 72% for tumors ≤5 cm and 74% for tumors >5 cm and ≤10 cm (Figure 5B). There was a striking association between site and local recurrence–free survival. Intra-abdominal, chest wall, and extremity tumors had relatively poor outcomes (5-year local recurrence–free survival 76%, 72%, and 60% respectively). Desmoid tumors in the neck, which were considered collectively with extremity lesions in the main analyses, behaved nearly identically to extremity tumors (5-year local recurrence–free survival 43% for neck versus 47% for lower extremity). Abdominal wall tumors had the best outcome (5-year local recurrence–free survival 90% [Figure 5C] vs. 34% in patients ≤25 y.o. with large, extremity tumors [n=11]). Only 8 of 79 patients with abdominal wall tumors had recurrence. All were 40 or younger, and 3 of the 8 had tumors over 10 cm. Only one abdominal wall desmoid tumor that recurred, a rectus sheath lesion, was <5 cm.

A multivariate analysis demonstrated that age, tumor size, and tumor site are independent predictors of recurrence. Margin status (R1 vs. R0) was not associated with altered outcome in the cohort as a whole or in subgroups defined by age or tumor site. However, among patients with small desmoid tumors (<5 cm), R0 resection was associated with longer local recurrence–free survival compared to R1 resection (76 vs. 60%). Margin was not associated with recurrence in larger lesions.

For access to the Local Recurrence-Free Survival After Surgery tool based on data from patients treated at Memorial Sloan Kettering Cancer Center please go here: The Memorial Sloan Kettering Cancer Centerat https://www.mskcc.org/nomograms/sarcoma/desmoid

Figure 5. Desmoid tumor life expectancy – Recurrence-free survival in 439 patients undergoing complete gross resection of a desmoid tumor stratified by (A) patient age, (B) tumor size, and (C) tumor location.

[Source ³¹]

Desmoid tumor causes

Desmoid tumors result from the proliferation of well-differentiated myofibroblasts or fibroblasts. The exact cause of desmoid tumor or desmoid fibromatosis is still unknown, but they seem to have a multi-factorial origin with hormonal, trauma and genetic factors with mutations in the Wnt/APC/beta-catenin pathway being involved ³², ³³, ³⁴, ³⁵.

Mutations in the catenin beta 1 (CTNNB1) gene or the adenomatous polyposis coli (APC) gene cause desmoid tumors ³⁶. CTNNB1 (catenin beta 1) gene mutations particularly at codons 41A, 45F, and 45 (with p.Thr41Ala and p.Ser45Phe being the most common mutations) account for around 90 to 95 percent of sporadic desmoid tumors ², ¹⁵, ³⁷. Mutation 45F is associated with a high risk of recurrence ⁹, ³⁸, ³⁹. The 5-year recurrence-free survival rate has been reported to be 23% for patients with a 45F mutation, 57% for patients with a 41A mutation, and 65% for those with no mutations ¹.

Conversely, hereditary cases, often associated with familial adenomatous polyposis (FAP) or Gardner syndrome as well as 10 to 15 percent of sporadic desmoid tumors, are linked to germline APC (adenomatous polyposis coli) gene mutations ³⁷. Both the CTNNB1 and the APC genes are involved in an important cell signaling pathway that controls the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation).

The CTNNB1 gene provides instructions for making a protein called beta-catenin ⁴⁰. Beta-catenin protein is present in many types of cells and tissues, where it is primarily found at junctions that connect neighboring cells (adherens junctions) ⁴⁰. Beta-catenin plays an important role in sticking cells together (cell adhesion) and in communication between cells ⁴⁰.

The beta-catenin protein is also involved in cell signaling as an essential part of the Wnt signaling pathway ⁴⁰. Certain proteins in Wnt signaling attach (bind) to beta-catenin, which triggers a multistep process that allows the protein to move into the cell nucleus. Once in the nucleus, beta-catenin interacts with other proteins to control the activity (expression) of particular genes. The Wnt signaling pathway promotes the growth and division (proliferation) of cells and helps determine the specialized functions a cell will have (differentiation). Wnt signaling is known to be involved in many aspects of development before birth. In adult tissues, Wnt signaling plays a role in the maintenance and renewal of stem cells, which are cells that help repair tissue damage and can give rise to other types of cells.

The adenomatous polyposis coli (APC) gene provides instructions for making the APC protein, which plays a critical role in several cellular processes ⁴¹. The APC protein acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way ⁴¹. The APC protein helps control how often a cell divides, how it attaches to other cells within a tissue, and whether a cell moves within or away from a tissue. The APC protein also helps ensure that the number of chromosomes in a cell is correct following cell division. The APC protein accomplishes these tasks mainly through association with other proteins, especially those that are involved in cell attachment and signaling ⁴¹.

One protein with which APC associates is beta-catenin ⁴¹. Beta-catenin helps control the activity (expression) of particular genes and promotes the growth and division (proliferation) of cells and the process by which cells mature to carry out specific functions (differentiation). Beta-catenin also helps cells attach to one another and is important for tissue formation. Association of APC protein with beta-catenin signals for beta-catenin to be broken down when it is no longer needed ⁴¹. When beta-catenin is no longer needed, the APC protein attaches (binds) to it, which signals for it to be broken down. Mutations in the APC gene that cause desmoid tumors lead to a short APC protein that is unable to interact with beta-catenin. As a result, beta-catenin is not broken down and, instead, accumulates in cells. Excess beta-catenin, whether caused by CTNNB1 or APC gene mutations, promotes uncontrolled growth and division of cells, allowing the formation of desmoid tumors.

Most desmoid tumors are sporadic and are not inherited ²⁶. Sporadic tumors result from gene mutations that occur during a person’s lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations (changes in DNA that occur sporadically or randomly) in either the CTNNB1 or the APC gene can cause sporadic desmoid tumors ²⁶.

A history of trauma often surgical to the site of the desmoid tumor is elicited in 1 in 4 cases ⁴². Desmoid tumors most commonly arise from the rectus abdominis muscle in postpartum women and in scars due to abdominal surgery ⁴³. Implant-associated breast desmoid tumors may also occur ⁴⁴. An endocrine cause is suggested. Desmoid tumors most commonly appear in young women during or after pregnancy. The tumors regress during menopause ⁴⁵ and after tamoxifen (a selective estrogen-receptor modulator [SERM]) treatment to reduce the risk of developing breast cancer ⁴⁶. Desmoid tumors may regress after exposure to oral contraceptives ⁴⁷.

An inherited mutation in one copy of the APC gene causes familial adenomatous polyposis (FAP) and predisposes affected individuals to develop desmoid tumors. The desmoid tumors occur when a somatic mutation occurs in the second copy of the APC gene. In these cases, the condition is sometimes called hereditary desmoid disease ²⁶.

Desmoid tumor symptoms

Desmoid tumors can develop at virtually any site in your body. Desmoid tumors most commonly present in the abdominal wall; however, they can also occur in your head, neck, arms and legs, and pelvis. Retroperitoneal desmoid fibromatosis are more common in familial polyposis coli and Gardner syndrome after abdominal surgery than in other conditions ⁴⁸. Desmoid tumors can have a wide range of clinical symptoms or no symptoms at all. Many desmoid tumors are accidentally picked up on a scan or a routine physical exam done for other medical reasons. Many people have no symptoms at the time of diagnosis or even after many years. Some people feel a range of symptoms that range from slight to severe pain, decrease in their movement or range of motion, swelling of the area affected by the desmoid tumor, loss of sleep, anxiety and many other symptoms.

Desmoids deep inside the abdomen or pelvis can also be entirely without symptoms or they can cause bloating, severe pain, rupture of intestines, compression of the kidneys or ureters or rectal bleeding. They can compress critical blood vessels such as the mesenteric vessels and the vena cava. It is important to know that the desmoid tumors that present superficially on the abdominal wall behave much differently than the ones that are deep inside the abdomen or pelvis.

If the desmoid fibromatosis tumor is large enough, it can mimic cancer of the affected organ (eg, breast cancer). In these cases, the only way to establish a definitive diagnosis is to perform a biopsy.

Intra-abdominal and extra-abdominal desmoid fibromatosis

Intra-abdominal aggressive fibromatosis may be seen. Extra-abdominal aggressive fibromatosis may also be seen (rarely) in the urological system, including in the bladder and scrotum ⁴⁹, ⁵⁰. Intra-abdominal desmoid tumors remain asymptomatic until their growth and infiltration cause visceral compression. Symptoms of intestinal, vascular, ureteric, or neural involvement may be the initial manifestations. An ethmoidal desmoid tumor has been described in a child ⁵¹.

Breast desmoid fibromatosis

Aggressive fibromatosis account for 0.2% of primary breast tumors, developing from muscular fasciae and aponeuroses ⁵². Desmoid fibromatosis may mimic breast cancer, either in the breasts or, less commonly, in the armpits ⁵³, ⁵⁴. When a desmoid tumor involves the breast, it may mimic breast cancer on physical examination, mammography, and breast ultrasonography ⁵³.

Desmoid tumor complications

The complications of aggressive fibromatosis or desmoid tumor depends on their location, extent, and infiltrative capacity.

Intra-abdominal desmoid tumors — may cause intestinal or ureteral obstruction or involve the mesenteric vessels.
Pelvis desmoid tumors — may infiltrate the urinary bladder or cause hydrosalpinx.
Extra-abdominal desmoid tumors — may invade the pleura if occurring in the chest or may compress nearby vessels and nerves.

Pain management is crucial due to the potential for the tumor to invade the surrounding tissue and can be very difficult to remove surgically.

Desmoid tumor diagnosis

Initial diagnosis is based on imaging techniques (computed tomography [CT scan] and magnetic resonance imaging [MRI scan]) revealing the presence of an infiltrative growing mass. Diagnosis is confirmed by tumor biopsy showing abundant collagen surrounding elongated spindle-shaped cells containing small and regular nuclei and pale cytoplasm. Immunohistological examination shows expression of muscle cell markers (e.g. actin, desmin, vimentine) and absence of CD34. Moreover, diagnosis can be confirmed by screening for mutations of CTNNB1.

In rare circumstance, a biopsy may not be safe or feasible. When a biopsy is recommended, there are a variety of options which include: a core needle biopsy which takes a small piece, usually 1 mm wide by 10 mm long; and, surgical biopsies which may take a portion of the tumor (“incisional biopsy”) or may remove the entire visible tumor (“excisional biopsy”). While an excisional biopsy may remove all visible tumor, when pursuing this option it is necessary to discuss with your surgeon the possibility of leaving some tumor behind – either gross or microscopic – and most importantly, what are the short-term and long-term side effects of the excisional biopsy. The pathologist takes very fine sections of the biopsy material and examines them under the microscope looking for special features that define desmoid tumors.

Histologically, desmoid tumor is usually poorly circumscribed and composed of abundant collagen surrounding poorly circumscribed bundles of spindle cells. The dense bundles of eosinophilic spindle cells contain regular nuclei and pale cytoplasm with neither mitoses nor giant cells. Macrophages, giant cells, and lymphocytes are present peripherally. In most patients, staining for nuclear beta-catenin, vimentin, cyclooxygenase‐2 (COX‐2), c-KIT, PDGFRb, androgen receptors and beta estrogen receptors using immunohistochemistry will be positive and help establish a definitive diagnosis. They are negative for desmin, S-100, h-caldesmon, CD34 and CKIT ⁵⁵, ⁵⁶.

Given the high rate of misdiagnosis that occurs, guidelines recommend a second opinion by an expert pathologist for confirmation.

Desmoid tumor differential diagnosis

Differential diagnoses for extra-abdominal desmoid tumors:

Fibroblastic sarcoma
Gardner fibroma.

Differential diagnoses for intra-abdominal desmoid tumors:

Gastrointestinal stromal tumor
Solitary fibrous tumor
Inflammatory myofibroblastic tumor
Sclerosing mesenteritis
Retroperitoneal fibrosis
Secondary to certain drugs or an underlying cancer.

Desmoid tumor treatment

For aggressive fibromatosis or desmoid fibromatosis that are asymptomatic or nonprogressive, some prefer a wait-and-see approach ⁵⁷. However, aggressive, wide surgical resection is the treatment of choice for desmoid fibromatosis or aggressive fibromatosis ⁵⁸. Complete surgical excision of desmoid fibromatosis or aggressive fibromatosis is the most effective method of cure. This sometimes necessitates removal of most of an anterior compartment of a leg. Extensive cases may require excision plus adjuvant (add-on) treatment including chemotherapy and repeat surgery ²⁷. Positive margins (incomplete resections) after surgery reflect a high risk for recurrence ²⁸. Surgery plus the administration of nonsteroidal anti-inflammatory medication (NSAIDs), hormonal therapy, and cytotoxic chemotherapy is sometimes used, the latter being the most effective pharmacological approach ²⁹. In selected patients, radical resection with intraoperative margin evaluation by frozen sections followed by immediate mesh reconstruction may be a safe and effective procedure providing definitive cure yet minimizing functional limitations ³⁰.

Lesions involving the extremities and deep soft tissues of the trunk have a higher risk of recurrence, as do Gardner syndrome–associated lesions in other locations ⁵⁹.

In those patients who refuse surgery or are not surgical candidates, the options below may be considered.

Radiation therapy may be used as a treatment for recurrent disease or as primary therapy to avoid mutilating surgical resection. It may be used postoperatively, preoperatively, or as the sole treatment ⁶⁰.

Systemic therapy is appropriate if a primary complete resection is not feasible or if there is relapse or progression after resection ⁶¹. There are a number of novel drug therapy candidates for desmoid tumors ⁶². Pazopanib, a potent tyrosine kinase inhibitor, represents a promising new therapy for desmoid tumors in adolescent and young adult patients ⁶³.

In November 2023, the US Food and Drug Administration (FDA) approved the first drug for desmoid tumor, nirogacestat (Ogsiveo) ⁶⁴ . Nirogacestat, a gamma secretase inhibitor, cleaves multiple transmembrane proteins, including Notch, that are believed to play a role in activating pathways that contribute to growth of desmoid tumors ⁶⁴. Nirogacestat (Ogsiveo) is indicated for adults with progressing tumors who require systemic treatment ⁶⁴. The approval was supported by results from the phase 3 DeFi clinical trial ⁶⁵. In the DeFi clinical trial ⁶⁵, 70 patients were assigned to receive nirogacestat and 72 to receive placebo. Nirogacestat showed a significant progression-free survival (PFS) benefit over placebo; the likelihood of being event-free at 2 years was 76% with nirogacestat and 44% with placebo ⁶⁵. Between-group differences in progression-free survival (PFS) were consistent across prespecified subgroups. The percentage of patients who had an objective response was significantly higher with nirogacestat than with placebo (41% vs 8%), with a median time to response of 5.6 months and 11.1 months, respectively; the percentage of patients with a complete response was 7% and 0%, respectively ⁶⁵.

There are a number of new drug therapy candidates for aggressive fibromatosis ⁶⁶. Pazopanib, a potent tyrosine kinase inhibitor, represents a promising new therapy for aggressive fibromatosis in adolescent and young adult patients ⁶⁷. Another drug option is sorafenib ⁶⁸.

Drug therapy with antiestrogens and prostaglandin inhibitors may also be used. Drug therapy result in objective response rates of approximately 40-50% of aggressive fibromatosis; the duration of response is variable ⁶⁹.

In cases of recurrent extra-abdominal desmoid tumors in which surgery is contraindicated or in cases of recurrence, a chemotherapeutic regimen of doxorubicin, dacarbazine, and carboplatin may be effective. Intra-abdominal desmoid tumors as a part of Gardner syndrome may respond to systemic doxorubicin, and ifosfamide can be useful for patients with complications from the tumor ⁷⁰. Polychemotherapy has been used ⁷¹ and can be combined with targeted therapy with imatinib ⁷².

Expanded knowledge of familial adenomatosis polyposis–desmoid tumor molecular underpinnings may aid in the development of novel therapeutic strategies ⁷³.

Magnetic resonance‒guided high-intensity focused ultrasound may prove a safe and effective option for selected desmoid tumors ⁷⁴.

Split-course radiotherapy in patients with desmoid tumors was well tolerated with good outcomes ⁷⁵.

Active surveillance

Desmoid tumors display a wide range of behaviors and often unpredictable clinical course. This can range from shrinking spontaneously without any intervention, to remaining stable or growing rapidly. In some circumstances especially when patients are asymptomatic, it is reasonable to just watch the tumor carefully with images and/or physical examination. How often you need scans and/or physical exams during a “wait and watch” period will vary for each situation and your treating physician will discuss this with you.

In recent years, as a result of the unsatisfactory results obtained with surgery, the initial approach for desmoid tumors has turned toward a conservative, non-operative strategy, which is now the strategy of choice. It is recommended that all cases have a period of active surveillance. It allows for better predictions concerning the natural history and biology of desmoid tumors and allows the clinician to plan the next step in the therapeutic sequence, since a high percentage of cases reach a stabilization period and some patients even present regression of the tumor ⁷⁶. Active surveillance was first proposed for patients that had recurrences not amenable for limb salvage; being a benign tumor, the main goal of observation was to avoid mutilating procedures. Under the surveillance period, it was noted that more than half of the tumors stabilized. Afterwards, the same strategy was offered to patients with resectable tumors and the same results were obtained, setting the foundations for what is now the initial treatment of choice; active surveillance ⁷⁷.

The rationale for active surveillance is based on the fact that most patients will be able to avoid an unnecessary surgical procedure. Approximately 50% of the cases enter a stabilization period in an average of 14 to 19 months. When progressive disease presents, it is usually in the first months of observation and is rarely seen after three years of follow-up. Following this approach, only 14–16% of cases will require a surgical intervention and a quarter of the patients will show tumor regression. It has been demonstrated that the surveillance period can be safely carried out without detrimental outcomes in those patients who progress ⁷⁸, ⁷⁹. Recently, Duhil de Bénazé et al ⁸⁰, reported encouraging outcomes in young patients with an initial wait and see approach. It was proved to be a safe and feasible option, not associated with impair in long term functionality when compared with other treatment strategies ⁸¹, ⁸⁰. Another case-series, carried out by Grignol et al ⁸¹, included 142 patients (74 with primary tumors and 68 with recurrent tumors), in which a total of 83 patients were managed with active surveillance and reached a 5-year progression-free survival of 49.9%.

A study of patients with desmoid tumors managed at a referral center in the United Kingdom demonstrated a shift in the trend of treatment over time. The authors reported an increase from 10% in 1998 to 40% in 2016 of patients managed with active surveillance initially ⁸². In the whole series, they had a 36% of stable disease with 27% of either partial or complete response and 36% of progressive disease. They recorded older age (> 50 years old) as a risk factor for progression when compared with younger patients, as well as upper extremity and chest wall location ⁸².

The period of active surveillance should include close monitoring of patients with MRI or computed tomography every month for the first two months, then every three months for the first year followed by every six months until the fifth year, and yearly after. The intensity of the surveillance regimen, especially during the first years serves for early identification of rapidly progressive cases. Patients who have tumors in life-threatening locations as well as those with severe pain may avoid the surveillance period.

Surgery

According to the latest European consensus on desmoid tumors, surgery should be considered in cases of progression to medical or radiation therapies, always considering location and age. When surgery is carried out, it should always be done trying to preserve function and after considering all the alternatives for it. Cases of mesenteric or retroperitoneal tumors not associated with familial polyposis can be treated initially with surgery due to the morbidity and symptoms they cause.

Until a few years ago, aggressive, wide surgical resection is the treatment of choice for desmoid tumor or aggressive fibromatosis ⁵⁷, ⁸³. Complete surgical excision of desmoid tumor is the most effective method of cure. This sometimes necessitates removal of most of an anterior compartment of a leg. However, the 5-year recurrence rate was high, ranging from 25% to 60%, and extensive or disabling procedures were common ¹⁰. However, it can be difficult during surgery to determine the outer extent of the tumor. This is because desmoid tumors are not well encapsulated and they often intertwine with other tissues. Historically, most people with desmoid tumors underwent some form of surgery. Over the last few decades, it is increasingly being recognized that desmoid tumors have a high risk of returning even with surgery. While statistics may vary, about 25 to 40 percent of patients who undergo surgery can have a local recurrence (return at or near the original site). The goal of surgery is to remove the entire tumor and minimize the risk of recurrence. Scientific research has shown that some types of desmoid have much higher risk of recurrence after surgery than others. This can be calculated using an online calculator (MSKCC nomogram here: https://www.mskcc.org/nomograms/sarcoma/desmoid). All nomograms are estimations and not always accurate. When making a decision to undergo surgery, you have to have an open conversation with your surgeon about the risk of recurrence, time to recurrence and the short-term and long-term side-effects of the surgery. Increasingly, surgery is falling out of favor for desmoid tumors given their high risk of recurrence and other side effects. In some circumstances, surgery may be the best option and can result in great outcomes including a cure. In conclusion, the decision to undergo surgery is a complex one and should be weighted carefully. As desmoid tumors often recur, a surveillance strategy every 3-6 months is essential.

Desmoid tumors frequently invade a limb’s vital nerves and blood vessels. Because of this, full removal of the tumor may impair function in the surrounding area. Limited surgery, combined with additional treatments, such as radiation or chemotherapy, may be successful in these cases.

For unresectable desmoid tumors or those not amenable to surgical resection with R0 (microscopic tumor clearance) intent or accompanied by an unacceptable function loss, non-surgical treatments comprise radiotherapy, anti-estrogen therapy, non-steroidal anti-inflammatory agents, chemotherapy (e.g. methotrexate, vinblastine/vinorelbine, pegylated liposomal doxorubicin) and/or tyrosine kinase inhibitors (e.g. imatinib, sorafenib).

Extensive cases may require excision plus adjuvant (add-on) treatment including chemotherapy and repeat surgery ⁸⁴. In selected patients, radical resection with intraoperative margin evaluation by frozen sections followed by immediate mesh reconstruction may be a safe and effective procedure providing definitive cure yet minimizing functional limitations ⁸⁵. However, there has been a recent tendency to more conservative management ³². Active surveillance MRI has become a popular option ⁸⁶.

Amputations should seldom be used for aggressive fibromatosis and only in cases of unresectable and severe, untreatable symptomatic recurrent disease or when some treatment-related side effects (surgery +/− radiation therapy) cause significant loss of function or disabling chronic symptoms ⁸⁷, ⁸⁸, ⁸⁹.

Evidence suggests that pregnancy does not adversely affect surgical outcomes ⁹⁰.

Lesions involving the extremities and deep soft tissues of the trunk have a higher risk of recurrence, as do Gardner syndrome–associated lesions in other locations ⁹¹.

Systemic therapy

Current indications for systemic treatment include rapidly progressive desmoid fibromatosis or patient rejection to active surveillance. Systemic treatment options for desmoid fibromatosiss include non-steroid anti-inflammatory drugs (NSAIDs), anti-hormonal therapies, tyrosine kinase inhibitors (TKI), and conventional “low dose” chemotherapeutic regimens, including liposomal doxorubicin.

Anti-inflammatories have shown the ability to block the beta-catenin pathway mediated by cyclooxygenase‐2 (COX‐2) or prostaglandins, and thus induce an objective response and improve pain control. The proposed mechanism of this response is due to cyclooxygenase‐2 (COX‐2) overexpression in the tumor microenvironment, causing increased expression of platelet-derived growth factor (PDGF) that contributes to tumor growth, stimulates angiogenesis and promotes pathways of resistance to apoptosis. Among the most widely used non-steroid anti-inflammatory drugs (NSAIDs) are sulindac, indomethacin, meloxicam and celecoxib ⁹².

Anti-hormonal agents have been used with favorable results even though experts do not know precisely its mechanism of action. The pathway of transforming growth factor beta may be implicated. Tamoxifen and toremifene are the most widely used agents. In one study, progression-free survival was 90% at 12 and 24 months. According to RECIST, partial response, stable disease, and disease progression were observed in 25%, 65% and 10% of patients, respectively. They can be used alone or in combination with anti-inflammatory (anti-COX2) drugs. They are generally the first line of treatment due to their good tolerance and low toxicity profile. Unfortunately, response is usually poor, mostly achieving stabilization of the disease and improvement in pain, which can be observed promptly after treatment has started ⁹³.

Controversy exists for the use of systemic chemotherapy in a disease that does not carry a metastatic potential; however, it should be considered as the first line treatment in patients with rapidly progressive or unresectable symptomatic desmoid fibromatosis. Drugs used include doxorubicin (alone or in combination with dacarbazine), vinorelbine, vinblastine, and methotrexate. The anthracycline-based regimen is similar to the one used in sarcomas and is associated with high response rates. It is administered for 6–8 cycles, and regardless of the combination used, objective response or stabilization of the disease is achieved in 80% of the cases, with a lasting response in 45% of patients ⁹⁴.

Tyrosine kinase inhibitors (TKI) have shown objective responses, despite the fact that their mechanism of action is not fully understood in this circumstance. Still, by blocking the receptor phosphorylation, activation, and proliferation of the kinase, they inhibit growth and block cell proliferation. Agents used include imatinib, nilotinib, sorafenib, sunitinib, and pazopanib. Pazopanib, a potent tyrosine kinase inhibitor, represents a promising new therapy for aggressive fibromatosis in adolescent and young adult patients ⁶⁷. Imatinib, a selective tyrosine kinase inhibitor (TKI), inhibits several receptors including ABL, PDGFR, and CKIT and has demonstrated a 3-year progression-free survival of 58% with 6% regression after 19–26 months of treatment with a clinical benefit in 84% of the patients ⁹⁵, ⁹⁶, ⁹⁷.

In the DESMOPAZ randomized open phase 2 trial, where patients with progressive desmoid fibromatosis were included, and randomly assigned to pazopanib or vinblastine and methotrexate. The primary objective was the proportion of patients who did not progress in the first six months with 83.7% for pazopanib and 45% for methotrexate-vinblastine. Adverse events were well tolerated ⁹⁸.

Gounder et al ⁹⁹ conducted a phase 3, double-blind study in 87 patients with desmoid fibromatosis and progressive symptomatic or recurrent disease. One arm received sorafenib 400 mg orally daily and was compared with placebo. Crossover to the sorafenib group was allowed for patients in the placebo group with progressive disease. The primary objective was progression-free survival. Objective response rates and adverse events were also evaluated. The 2-year progression-free survival rate was 81% in the sorafenib group and 36% in the placebo group. Before crossover, the objective response rate was 33% in the sorafenib group and 20% in the placebo group. Among the patients receiving sorafenib, the most frequently reported adverse events were grade 1 or 2 events, namely rash (73%), fatigue (67%), hypertension (55%), and diarrhea (51%). The high response rate in the placebo group is to be noted and can suggest a proportion of patients with spontaneous regression ⁹⁹.

Finally, several new pieces of evidence support the concept that deregulation of the mammalian target of the rapamycin (mTOR) cell proliferation/survival pathway may play an important role in tumor biology when the APC/beta-catenin pathway is disrupted. Sirolimus, a drug that inhibits the mammalian target of rapamycin (mTOR), is currently being evaluated as an anti-cancer agent in desmoid tumor ¹⁰⁰.

Radiation Therapy

The role of radiotherapy is controversial. Indications for its use in desmoid fibromatosis are debated due to its toxicity, especially in the young population. In the Italian-French consensus it is recommended in progressive disease or in the absence of other therapeutic alternatives ⁹⁵. In a retrospective review of 22 articles the local control rate was 75% when radiotherapy + surgery was used, 78% for radiotherapy and 61% for surgery, including patients with positive and negative margins; therefore they suggest its use in anatomical sites where surgery can generate considerable morbidity, such as head and neck ¹⁰¹.

The recommended dose is 50–56 Gy in 2 Gy fractions. Other studies have published doses greater than 56 Gy, but they have failed to demonstrate improvement in local control and are associated with greater toxicity including edema, pathological fractures, fibrosis, soft tissue necrosis or vascular complications as well as radio-induced neoplasms ¹⁰². In 2017 a meta-analysis was published and concluded that adjuvant radiotherapy should be considered especially in those patients with R1 or R2 resections, since they are at greatest risk of recurrence ¹⁰³.

Adjuvant radiation therapy

The role of radiation therapy in desmoid tumors has been debated. In a study ³¹, there was no improvement in outcomes in patients who had received radiation therapy during the course of their treatment (5-year local recurrence–free survival 68% vs 72% without radiation; Figure 6A). Additionally, adjuvant radiation therapy was not significantly associated with improved local recurrence–free survival in any subset of tumors (stratified by size, site, and patient age at diagnosis) except extremity tumors. Adjuvant radiation was most commonly used for extremity tumors (in 23% of these patients), and radiation for extremity tumors was associated with a 15% absolute reduction in local recurrence; local recurrence–free survival among patients with extremity tumors was 71% with radiation vs. 56% without.

Figure 6. Desmoid tumor life expectancy in patients receiving adjuvant radiation

Footnotes: (A) Recurrence-free survival in patients receiving adjuvant radiation versus those not treated with radiation. (B) Recurrence-free survival in patients treated before 1997, when 30% of patients received adjuvant radiation, versus during 1997 and later, when only 7% of patients received adjuvant radiation.

[Source ³¹]

Long-Term Monitoring

It is recommended to monitor patients in an outpatient setting, to perform a physical examination and imaging every 3–4 months, for the first 2 years. Subsequently, the intervals may be longer, and the clinician may choose to alternate MR imaging and ultrasound. When active surveillance is chosen, it should be performed with magnetic resonance imaging (MRI) and with CT for intra-abdominal tumors every month the first 2 months, then every 3 months for a year followed by every 6 months for 5 years and annually thereafter.

Desmoid tumor prognosis

The clinical outcome of aggressive fibromatosis or desmoid tumors may be unpredictable ²¹, ¹⁰⁴, ¹⁰⁵, ¹³, ¹⁰⁶. Some tumors resolve spontaneously and others frequently recur despite surgical intervention.

The clinical outcome of aggressive fibromatosis or desmoid tumors can be divided into 4 main groups based on tumor progression:

Remains stable after diagnosis (most common). Frequently, an initial growth phase is followed by stabilization ¹⁰⁷, ¹⁰⁸, ¹⁰⁹.
Spontaneously resolves. Spontaneous regressions occur in 20%–30% of patients who are followed for 2–3 years ¹¹⁰, ¹¹¹. The prognostic value of miRNA expression profiling has been suggested as a way to delineate surgical candidates from those who might be monitored without treatment ¹¹².
Undergoes cycles of progression and resolution.
Progresses rapidly causing local infiltration with potential obstruction of vital structures and organs.

Intra-abdominal desmoid tumors carry the highest risk of complications, and patients with syndromic conditions such as familial adenomatous polyposis (FAP) are more likely to have more invasive, symptomatic tumors. Treatment focuses on preventing symptomatic disease rather than total cure; in 70% of patients, the tumor recurs following definitive management, such as surgery or radiotherapy.

Local desmoid tumor recurrence rates are reported to be as high as 70% ¹¹³. A positive surgical margin is a significant risk factor for recurrence ¹¹⁴, ¹¹⁵.

Factors significantly associated with shorter progression‐free survival (PFS) include age (younger than 37 years), tumor size (>7 cm), and tumor location (extra‐abdominal) ¹¹⁶, ¹¹⁷, ¹¹⁸, ¹¹⁹.

Intra-abdominal desmoid tumors may kill patients with familial adenomatous polyposis (FAP) ¹²⁰. Five-year survival rates of such patients with stage 1, 2, 3, and 4 intra-abdominal desmoid tumors were found to be 95%, 100%, 89%, and 76%, respectively ¹¹³. The 5-year survival rate of stage 4 patients with severe pain or narcotic dependency, tumor size larger than 10 cm, and need for total parenteral nutrition was only 53% ¹¹³.

A study of 179 patients with primary, sporadic desmoid tumors who had complete surgical resection found that those with the S45F mutation had a greater tendency for local recurrence than those without it ¹²¹.

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