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Desmoid Tumor

    / KOLs / Santa Barbara, CA, --

    A Desmoid Tumor is a noncancerous tumor that grows from the fibroblast cells in connective tissue. Also known as aggressive fibromatosis, it is a rare condition that does not usually impact lifespan but can cause debilitating symptoms in some patients.

    This noncancerous tumor is unable to metastasize, meaning it does not cause secondary growth in new parts of the body. Despite its inability to undergo metastasis, a Desmoid Tumor can grow anywhere; however, it tends to inhabit some locations more than others, such as the shoulders, abdomen, upper arms, and thighs.

    Furthermore, symptoms of desmoid tumors may depend on where the mass is; a growth in certain areas could cause more severe symptoms than in others. Symptoms can be debilitating for some patients, causing pain, swelling, and a loss of mobility in the area the Desmoid tumor has invaded. Still, Desmoid tumors differ for every patient, ranging from severe to mild and even no symptoms in some cases.

    Desmoid Tumors: The Risk Factors

    A Desmoid Tumor Doctors do not know the specific causes of a desmoid tumor. What is known, however, is that it grows from connective tissue and can happen when the DNA in connective tissue cells changes. This change leads to the cells multiplying rapidly and forming the Desmoid tumor.

    Despite no definite cause, some individuals may have a higher chance of developing a Desmoid Tumor than others.

    Desmoid tumors are more likely to affect:

    The Symptoms of a Desmoid Tumor

    Desmoid Tumor symptoms vary case by case. The signs of a desmoid tumor may depend on the tumor’s location, growth rate, and size.

    Generally, these are the common symptoms patients with desmoid tumors exhibit:

    • Pain
    • Swelling
    • Loss of motor function in a specific area
    • Nausea and cramping (when the growth is in the abdomen)

    Much like the symptoms themselves, their severity varies, with some patients experiencing a significant impact on their quality of life. Conversely, some Desmoid tumor patients show no signs of having the condition; each case is unique.

    Diagnosing Desmoid Tumors

    Due to the condition’s rarity, many doctors do not understand or even know what a Desmoid Tumor is. This lack of awareness often leads to patients attending numerous appointments with multiple doctors before they diagnose the condition.

    To diagnose a Desmoid Tumor, doctors usually perform physical exams, scans (including MR, MRI, and an ultrasound), and a biopsy. In general, a biopsy is an ideal way to confirm the presence of a Desmoid tumor. Once pathologists examine and analyze the fibroblast cells, they can diagnose the condition.

    In addition, Desmoid Tumor diagnosis may entail referral to an oncologist. Although desmoid tumors are benign, oncologists still work with this type of mass.

    Treating Desmoid Tumors

    Patients may receive tailored treatments as the tumor affects each individual differently, depending on its location and size.

    Below is an outline of the treatments a patient might expect after receiving a Desmoid tumor diagnosis:

    • Monitoring

      Sometimes, doctors prescribe no treatment. Instead, they may monitor the tumor over time to see if it regresses. Usually, medical professionals opt for this approach when the mass causes little to no symptoms.

    • Surgery

      If doctors can operate, treatment might include surgically removing the tumor. However, this is not always the best course of action, as desmoid tumors have a high incidence of recurrence. The peer-reviewed publication ‘Management and Recurrence Patterns of Desmoids Tumors: A Multi-institutional Analysis of 211 Patients’ revealed that desmoid tumors recurred in 60% of patients within five years of surgery.

    • Radiotherapy

      Radiation therapy can also treat Desmoid tumors because it targets and kills the growing cells.

    • Chemotherapy

      Chemotherapy is a relatively new treatment option. While it usually treats cancer, it can also help kill the fibroblast cells that form a desmoid tumor.

    • Drug Treatments

      Drug treatments have also improved symptoms in some patients, including anti-inflammatory medications and hormone therapies.

      Patients must speak with their doctor to create a treatment plan that suits their condition. Fortunately, treatment options for Desmoid Tumors are becoming increasingly sophisticated, thanks to the wealth of research from medical professionals.

    The Key Researchers of Desmoid Tumors

    Although desmoid tumors do not tend to decrease life expectancy, they can cause significant pain and reduce a patient’s quality of life. As a result, many experts study desmoid tumor cases to learn more about the condition, from how the growths react to treatments to the risk factors.

    Some of the researchers striving to uncover more about this kind of tumor are the following:

    • Benjamin Aaron Alman

      Professor Alman is an orthopedic clinician-scientist and Chair of Orthopaedic Surgery at Duke University in North Carolina. Among his numerous accolades, he received the Premier’s Research Excellence Award for his outstanding work, the OREF Research Award, and the Royal College Medal in Surgery. Collectively, his research and findings help improve treatments for patients suffering from aggressive fibromatosis.

      Overall, Professor Alman has undertaken multiple studies on Desmoid tumors; in one of his works, ‘Optimal therapy for desmoid tumors: current options and challenges for the future,’ he reviewed the latest findings in Desmoid Tumor biology. Other publications contributing to desmoid tumor research include ‘Crispr-Sid: Identifying Ezh2 As A Druggable Target For Desmoid Tumors Via In Vivo Dependency Mapping’ and ‘Mesenchymal Tumors Can Derive From Ng2/cspg4-Expressing Pericytes With Β-Catenin Modulating The Neoplastic Phenotype’.

    • Jacek Sygut

      As a neoplasm pathologist, Dr. Sygut has researched the mysteries surrounding aggressive fibromatosis. In his article ‘Aggressive fibromatosis (desmoid tumors): definition, occurrence, pathology, diagnostic problems, clinical behavior, genetic background,’ he delves into the latest developments on the condition, highlighting that there is a notable difference between the frequency of Desmoid tumors in men and women.

    • Patrick J. O’Neill

      Dr. O’Neill is a respected orthopedic surgeon at The John Hopkins University of Medicine in Maryland. He also spends his time researching and studying desmoid tumors. In his article ‘Desmoid Tumor of the Spinal Canal Causing Scoliosis and Paralysis,’ Dr. O’Neill talks about a Desmoid Tumor case that caused scoliosis and paralysis in a 12-year-old female patient. He examined the surgical excision of the growth and found that the patient tolerated it well. The patient has since been free of recurrence for nine years.

      More patients are receiving a favorable prognosis thanks to the research and studies conducted by medical experts. Every piece of research these professionals have contributed directly influences the development and understanding of Desmoid Tumors.

    Desmoid Tumors: The Prognosis

    The prognosis for Desmoid tumor patients depends on several factors: where it occurs, how fast it grows, and whether doctors can operate. This noncancerous tumor does not usually affect lifespan; however, the main concerns include the impact on a patient’s quality of life, as some may experience pain, swelling, and loss of mobility in certain areas. It can also be a complicated tumor if it grows in the abdomen, as explained in the publication ‘Desmoid tumor of the abdominal wall: a case report.’

    In many cases, Desmoid Tumor treatments such as surgery, anti-inflammatory drugs, and radiation therapy can help patients manage severe symptoms if they occur. As time goes by, research into desmoid tumors continues, and while it is a rare kind of tumor, scientists work hard to understand it and improve patient prognosis.


  • Recent articles about Desmoid Tumor

    Management Of Desmoid Tumors In Patients After Ileal Pouch‐anal Anastomosis For...

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    METHODS: A retrospective review was undertaken of the records of all patients who underwent surgical management for a desmoid ...

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    Shrinkage Of Desmoid Tumor With Interferon Alfa Treatment: A Case Report

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