Desmoid tumors, also known as aggressive fibromatosis, are rare, locally invasive tumors arising from connective tissue that, while not metastatic, can cause significant symptoms due to compression and require careful management, with active surveillance being a primary approach.
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Desmoid tumors, also called aggressive
fibromyitosis, occur when connective
tissue cells called myopiroblasts begin
to multiply out of control, creating a
tumor-like mass.
The condition is similar to fibroaroma,
a type of malignant cancer. However,
desmoid tumors do not metastasize to
other parts of the body. Given their
cell of origin, they are part of a
larger group of tumors called
sarcomomas. Desmoid tumors are rare. The
condition primarily affects young
people, usually between 10 to 40 years
of age and is more common in females
The pathology of desmoid tumors is
currently not wellnown. In most
patients, the disease occurs
spontaneously with no known specific
trigger or cause. While estrogen or past
surgeries in the same location as the
tumor have been suggested as possible
risk factors, more research needs to be
done to confirm this.
That said, 3.5 to 32% of patients with
familial adnommitus polyposis and
inherited syndrome where polyps develop
in the intestine and skin will develop
desmoid tumors as part of this
condition. These patients have a variant
in their adinomatus polyposis coli or
APC gene which is a tumor suppressor
gene. The APC gene variant can cause
uncontrolled cell division and as a
result polyp develop within the
patient's body. Over time if left
untreated these polyps can develop into
tumors. Any patient who develops a
desmoid tumor particularly
intraabdominal should be evaluated for
this syndrome. Symptoms
Symptoms
vary from person to person depending on
the person's age, where the tumor arises
in the body, and the size of the tumor.
The most common symptom is the
development of a mass or swelling that
is often painless to the touch. As the
tumor gets bigger, the mass begins
compressing the nerves and muscles
around it, causing soreness or pain.
This can lead to restricted movement or
chronic limping if the tumor develops in
the patients arms or legs. Tumors that
arise in the bowels can cause abdominal
pain or may lead to bowel obstruction or
blockage if they get big enough.
Initial diagnosis is often done with
medical imaging through an ultrasound,
CT scan or MRI. The tumors are usually
circumscribed homogeneous masses with
projections or tails. However, their
appearance can be irregular and
illdefined, particularly when they occur
in the abdomen. The appearance and
characteristics of these tumors are
enhanced with injection of an
If a tumor is suspected, the diagnosis
is confirmed through biopsy where a
small amount of tissue from the tumor is
extracted and examined under a
microscope. Desmoid tumors
characteristically have a high
concentration of myofibrolasts, a cell
that is typically seen during the late
stages of wound healing. The nuclei of
these cells often have an increased
level of betaatin, a protein that is
produced when someone has an APC gene
variant. The tumor cells will also
contain a number of antibodies such as
smooth muscle actin desine and kit.
Treatment depends on the size and
location of the tumor and the patients
overall health. If the tumor is not
causing significant symptoms and the
tumor growth is unlikely to compress
important nearby structures, the first
line treatment is active surveillance,
also known as watch and wait. A third of
all desmoid tumor patients see
spontaneous regression of the tumor. If
the patient is experiencing significant
symptoms, surgical removal,
chemotherapy, radiation, and ablative
treatments may be used. The choice
between these depends on the location of
the tumor. While surgical removal is
often all that's needed, a fifth of
tumors recur after surgery and are often
more difficult to treat when they
return. For most patients requiring
treatment, medical therapies have become
first choice. Targeted oral chemotherapy
drugs like neurogasat, saraphanib, and
pesopanib can be used to halt tumor
growth or even shrink it. Neurogasat is
the first chemotherapy to be
specifically approved for the treatment
of desmoid tumors after a randomized
clinical trial should improved outcomes
for patients with progressing desmoid
tumors. In some cases, cytotoxic
introvenous chemotherapy with doxores or
methtoresate is utilized. A newer
approach is the use of ablative
treatments. Cryoablation where needles
are used to freeze the tumor and cause
cell death has been used for patients
meeting specific criteria.
Anti-inflammatory and anti hormone drugs
have also been used. However, they're
less effective than chemotherapy or
targeted therapies at shrinking desmoid tumors.
Today, there's ongoing research into
drugs that target specific receptors,
pathological pathways, or gene variants
found in desmoid tumors to help prevent
their growth. This work includes
evaluating local treatments as
alternatives to surgery and radiation,
researching several new chemotherapy
drugs as an alternative to surgery, and
investigating the use of combination chemotherapies.
chemotherapies.
These treatments are currently
undergoing clinical trials and are still
a few years away from clinical use.
As a quick recap, a desmoid tumor is a
rare condition in which myopibroblasts
begin to multiply out of control,
creating a non-malignant but locally
invasive tumor. While most cases occur
without any known cause, 3.5 to 32% of
patients with familial adematus
polyposis develop desmoid tumors.
Symptoms include a visible mass or
swelling as well as pain and restricted
movement. Diagnosis is initially done
through medical imaging and confirmed
with a biopsy.
The preferred treatment is active
surveillance also known as watch and
wait as a third of desmo tumors
spontaneously regress. If a patients
symptoms require medical intervention
then surgery, chemotherapy, radiation or
in some cases ablative treatments may be used.
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