desmoid tumor

A desmoid tumor, also known as aggressive fibromatosis or desmoid-type fibromatosis, is a rare type of noncancerous growth that arises from connective tissue [5]. This type of tumor can develop anywhere in the body since connective tissue is found everywhere in your body [1].

Desmoid tumors are typically slow-growing and locally invasive, meaning they tend to grow within the surrounding tissues and organs, but do not metastasize (spread) to other parts of the body [10]. They often appear as dense scar tissue that adheres to surrounding structures and can be difficult to remove surgically [7].

A single desmoid tumor usually develops, although some people may have multiple tumors [5]. These growths are considered benign (noncancerous), but they can cause significant morbidity and mortality due to their locally invasive nature [10].

Desmoid tumors most often occur in the abdomen, arms, and legs, but can form anywhere in the body. The symptoms of desmoid tumors differ based on where the tumors occur and can include a mass or area of swelling, pain, loss of function in the affected area, cramping, and nausea [11][12].

It's worth noting that while desmoid tumors are considered noncancerous, they can still cause significant problems due to their locally invasive nature.

Common Signs and Symptoms of Desmoid Tumors

Desmoid tumors can occur anywhere in the body, but most often develop in the abdomen, arms, and legs. The symptoms of a desmoid tumor vary depending on its location and size. Here are some common signs and symptoms:

• Mass or area of swelling: A painless or slightly painful lump can form in the affected area.
• Pain: Pain is a common symptom of desmoid tumors, especially if they occur in the abdomen.
• Loss of function in the affected area: As the tumor grows, it can compress nerves and muscles, leading to loss of function in the affected area.
• Cramping and nausea (for abdominal tumors): Abdominal desmoid tumors can cause cramping and nausea due to pressure on surrounding organs.

Additional Symptoms

Other symptoms that may occur depending on the location and size of the tumor include:

• Swelling: Swelling or inflammation in the affected area.
• Visible deformities: As the tumor grows, it can cause visible changes in the skin or underlying tissues.
• Impact on mobility: Desmoid tumors can compress nerves and muscles, leading to loss of function and impact on mobility.
• Impact on bodily functions: Depending on the location of the tumor, it can affect bodily functions such as urinary or bowel function, breathing, or swallowing.

References

1. [1] Desmoid tumor symptoms differ based on where the tumors occur. Desmoid tumors most often happen in the abdomen, arms and legs. But they can form anywhere in the body.
2. [3] For tumors in the extremities, patients usually notice a mass somewhere, growing at a very slow pace.
3. [5] The most common sign of a desmoid tumor is a lump in the arms, legs, or abdomen (belly).
4. [6] The most common symptom of desmoid tumors is pain.
5. [11] Symptoms from desmoid tumors vary greatly depending on the tumor location but can include pain, swelling, visible deformities, impact on mobility, and pressure on nearby organs affecting bodily functions such as urinary or bowel function, breathing, or swallowing.

Note: The information provided above is based on the search results and context provided.

Desmoid tumors can be diagnosed using various tests and procedures. Here are some of the diagnostic methods used to diagnose desmoid tumors:

• Physical exam: A physical examination by a doctor is one of the first steps in diagnosing desmoid tumors [1]. The doctor will examine the body to better understand the location, size, and characteristics of the tumor.
• Biopsy: A biopsy is considered the preferred diagnostic test for desmoid tumors. This involves taking a sample of tissue from the tumor using a fine-needle aspiration biopsy or surgical biopsy [2].
• Electron microscopy: Electron microscopy may be used to examine the tumor cells in more detail [2].
• Imaging tests: Imaging tests such as magnetic resonance imaging (MRI) and computed tomography (CT) scans can help doctors spot desmoid tumors. These growths often appear as dense scar tissue on imaging tests [3][4]. MRI or CT scans can also show the size and location of the tumor.
• Blood work: Standard blood work, including a complete blood count (CBC) and chemistry panel, may be ordered to rule out other conditions. Specialized testing such as tumor markers may also be performed [5].

It's worth noting that diagnosis can sometimes be tricky, and additional tests such as testing for the β-catenin anomaly may be necessary to confirm the presence of a desmoid tumor [6].

Treatment Options for Desmoid Tumors

Desmoid tumors, also known as aggressive fibromatoses, are rare and benign tumors that can occur in various parts of the body. While they are not cancerous, they can cause significant morbidity due to their potential to grow and invade surrounding tissues.

Targeted Therapies

Recent advances have led to the development of targeted therapies for desmoid tumors. One such therapy is nirogacestat (OgsiveoTM), which has been approved by the FDA for the treatment of this condition [1]. A phase 3 clinical trial found that nirogacestat shrank tumors in 40% of people with desmoid tumors and led to substantial improvements in symptoms [2].

Other Treatment Options

In addition to targeted therapies, other treatments for desmoid tumors include:

• Chemotherapy: This involves the use of strong drugs to kill tumor cells. While it can be effective, chemotherapy may not always lead to a complete response [3].
• Tyrosine kinase inhibitors (TKIs): Pazopanib is an example of a TKI that has shown promise in treating desmoid tumors, particularly in adolescent and young adult patients [4].
• Hormonal therapy: This type of treatment can be beneficial for patients with desmoid tumors associated with familial adenomatous polyposis (FAP) [5].

Current Recommendations

According to recent guidelines, the recommended treatment approach for desmoid tumors includes:

• Nirogacestat as a first-line option
• Tyrosine kinase inhibitors (such as pazopanib) as an alternative or in combination with chemotherapy
• Chemotherapy and other medications as needed [6]

References:

[1] Mar 9, 2023 — The FDA has approved nirogacestat (OgsiveoTM), a targeted therapy for desmoid tumors.

[2] May 1, 2023 — In a small clinical trial, the investigational drug nirogacestat shrank tumors in 40% of people with desmoid tumors and led to substantial improvements in symptoms.

[3] Dec 6, 2023 — Treatments for desmoid tumors include: Chemotherapy and other medications. Chemotherapy uses strong drugs to kill tumor cells.

[4] Nov 28, 2023 — Pazopanib, a potent tyrosine kinase inhibitor, represents a promising new therapy for desmoid tumors in adolescent and young adult patients.

[5] by A Napolitano · 2020 · Cited by 30 — Systemic therapy options include nonsteroidal anti-inflammatory drugs (NSAIDs), hormonal therapy, cytotoxic chemotherapy (single agent or combinations) and ...

[6] by M Gounder · 2023 · Cited by 140 — Nirogacestat was associated with significant benefits with respect to progression-free survival, objective response, pain, symptom burden, physical functioning ...

Differential Diagnosis of Desmoid Tumors

Desmoid tumors, also known as aggressive fibromatoses, are rare and benign proliferations of stromal cells that can grow locally aggressive. The differential diagnosis for desmoid tumors is broad and includes various neoplasms, reactive processes, and other conditions.

Common Differential Diagnoses:

• Low-grade sarcoma
• Benign fibroblastic proliferation
• Reactive processes
• Lymphoma
• Pleomorphic sarcoma
• Fibrosarcoma
• Giant cell tumor of the tendon sheath

Imaging Considerations:

• Carcinoid tumor
• Sclerosing mesenteritis
• Gastrointestinal stromal tumors
• Solitary fibrous tumors
• Inflammatory myofibroblastic tumors

Histopathologic Confirmation:

It is essential to obtain histopathologic confirmation in all cases before definitive treatment. Immunostaining with vimentin, alpha smooth muscle actin, muscle actin, and desmin can be helpful in distinguishing the tumors in the differential diagnosis.

Rarity of Desmoid Tumors:

Desmoid tumors are rare, accounting for only 0.03% of all neoplasms. The diagnosis and treatment pose a particular challenge to clinicians due to the lack of a standard approach.

References:

• [3] Kasper B, Ströbel P, Hohenberger P. Desmoid tumors: clinical features and treatment options for advanced disease. Oncologist. 2011;16(5):682–93.
• [12] The differential diagnosis of desmoid tumors includes other neoplasms, such as lymphoma, pleomorphic sarcoma, fibrosarcoma, and giant cell tumor of the tendon sheath.
• [11] Desmoid tumors (DTs) are histologically benign proliferations of stromal cells but may grow locally aggressive. Overall, DTs are rare (0.03% of all neoplasms).
• [9] Immunostaining with vimentin, alpha smooth muscle actin, muscle actin, and desmin are helpful in distinguishing the tumors in the differential diagnosis.

Note: The above information is based on the search results provided within the context.