Here you will find a series of questions and answers about our disease to help you get to know it better and remove those doubts that accompany you!
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We have seen correlations between high levels of estrogen (since the largest number of patients are women of childbearing age), probable trauma (in some cases they appear after surgery – such as in cases of caesarean or colectomy) and connective tissue disease.
In cases of desmoid tumor occurring in patients with familial adenomatous polyposis (FAP), the greater probability of forming desmoids is due to the mutation of the APC gene, related to β-catenin, a protein that plays a role in the pathogenesis of desmoid tumor.
By evaluating its growth rate, it is decided whether to continue monitoring it for a period – hoping for spontaneous stabilization/regression – or to start a treatment with drugs (especially in cases of rapid growth or cases where the tumor causes physical impossibility or severe unmanageable pain).
The patient must be followed by a sarcoma specialist (surgeon and/or oncologist) who will prescribe periodic checks (monthly, quarterly or half-yearly) to understand the behavior and evaluate the next step together (see FAQ n.11).
Finally, the mutational DNA analysis of cancer cells – carried out at particular reference centers – confirms the diagnosis with certainty and identifies the type of mutation.
On the other hand, tumors presenting mutated APC gene are associated with an hereditary syndrome: Gardner’s Syndrome, that is a Familial Adenomatous Polyposis (FAP) associated with the presence of desmoid tumors.
FAP is characterized by the presence of large amounts of polyps throughout the intestine. In this case, the mutation resides in all the patient’s cells, and this is the reason why patients with FAP may have multiple desmoid tumors localized in different sites of the body.
There are also rare cases in which there is no mutation in cancer cells, they are called “Wild Type”.
Esistono poi rari casi in cui non è presente alcuna mutazione nelle cellule tumorali, sono definiti “Wild Type”.
For this it’s important to be followed by a Pain Therapist, who helps us to manage pain since it’s essential to have a good quality of life.
Sometimes this can be psychologically difficult, which is why the Association is also involved in providing coaching and psychology services.
In some cases, especially in abdominal desmoid tumors, surgery may still be a first-line treatment, since this site is characterized by a lower risk of recurrence.
There are also cases of intra-abdominal desmoid tumors that are not responsive to chemotherapy and tumor growing inside the abdomen can be responsible of issues, so in this case surgery is still carried out.
Rarely, a patient with a sporadic tumor (β-catenin mutation) may form a desmoid tumor elsewhere in the body – this risk increases in the case of tumors treated with surgery, where the mass may recur in a site close to the site of removal of the previous one.
There are very rare cases of patients with a “sporadic multifocal limb tumor”, characterized by the presence on a single limb (upper or lower) of multiple desmoid tumors, for example hand, arm and forearm.
Patients with Gardner’s Syndrome (FAP) more commonly may develop multiple desmoids in various sites of the body.
Pazienti che presentano la Sindrome di Gardner (FAP) più comunemente possono sviluppare più desmoidi in varie sedi del corpo.
It is caused by germline mutations (i.e. mutations present in all cells of the individual, even those responsible for reproduction) in the APC gene and the children of affected people have a 50% risk of inheriting the mutation.
The clinical diagnosis is suspected based on the number of polyps but the confirmation of the diagnosis is entrusted to genetic tests. When the mutation that occurs in the family is identified, relatives at risk can use genetic test to find out if they have inherited the mutation. Carriers of the mutation will follow a specific surveillance program that begins around 11-14 years of age.
The main treatment for this disease is surgical, with prophylactic removal of the colon.
Patients with FAP have a greater risk of developing desmoid tumors than the rest of the population, often intra-abdominal after surgery, and in this case we speak about Gardner’s syndrome.
In order to avoid the formation of desmoid tumors following colectomies, in many centers it is preferred to use a laparoscopic technique during such operations to avoid the large incisions required by traditional “open” surgery.
There are cases of non-inherited FAP, where patients have discovered the disease due to bowel symptoms with no family history of colorectal cancer.
Patients with FAP normally have family cases of polyposis/colorectal cancer since this disease is transmissible, so most of the time they are already aware of polyposis in family history.
The suspicion of FAP can arise in wild-type tumors, which do not have either mutation, or in patients who have not carried out the mutational analysis and have intestinal symptoms that give rise to the suspicion.
In addition, there have been rare cases of patients with FAP who first discovered desmoid tumor and subsequently polyposis, since sometimes they did not know their family history or they were the only case in the family with FAP.
In intra-abdominal desmoid tumors and in case of tumors with APC mutation, colonoscopy is performed to confirm the presence or absence of concomitant Familial Adenotamous Polyposis.
However, refer to your oncologist who specializes in sarcomas, who will direct you to the right diagnostic tests to perform.
Unlike other types of tumor, especially in cases of desmoid tumor that have not completely regressed, checks can be recommended even after 5 years from the stabilization of it.
These checks are performed through MRI scans with or without contrast medium (contrast is prescribed in the case of more active tumors to be evaluated during therapy), CT scans (mainly used in intra-abdominal tumors) or rarely ultrasound scans.
The second step involves the use of low-dose chemotherapy, especially with Vinblastine and Metrotrexate.
In cases it’s necessary to be more aggressively and suddenly in decreasing the tumor, chemotherapy at higher doses can be used.
There are also antithyrosine kinase drugs such as Pazopanib and Sorafenib.
New drugs, currently under study through clinical trials, are Nirogacestat, an inhibitor of γ-secretases, and Tegavivint, which acts directly on β-catenin.
They are usually implanted on a day-hospital basis.
There are several drug treatments and the oncologist decides which therapy to administer depending on the patient and the adverse effects.
Some therapies for desmoid may have effects on fertility, some mild and others to an extent not yet confirmed.
The Association supports patients to think about preserving fertility in certain cases.
Sporadic desmoid tumors are not transmitted to children, being random tumors occurring in a single part of the body for which the mutation is not present in all cells of the individual.
In patients with FAP, on the other hand, APC gene mutation is also present in the germ cells, i.e. the cells responsible for the reproduction and “creation” of the new individual; in this case, therefore, patients with FAP can transmit the APC gene mutation to their children and, in 50% of cases, the latter may have FAP and consequently a greater predisposition to desmoids than the rest of the population.
However, it’s important to replace it with other methods of contraception and to talk to your oncologist about this topic.
No, there are no special diets designed to decrease or eliminate a tumor. However, we recommend an healthy and balanced diet that always has health benefits, especially for people suffering from diseases and undergoing drug treatment.
In patients undergoing chemotherapy, a correct diet – balanced and based on potential side effects of chemo, such as nausea and / or diarrhea – can help to better address and support therapies.
In patients with FAP and / or patients with intra-abdominal desmoid tumor who have undergone surgery and / or therapies with consequences on the proper functioning of the intestine, it’s recommended to follow a specific diet for any absorption and digestion problems, in order to have a better quality of life.
This is why the Association offers a consultation service with a Nutritionist.