Desmoid Tumors, or aggressive fibromatosis, are another rare disease that is common among those with Familial Adenomatous Polyposis (FAP). According to NORD, up to 32% of those with FAP will develop a desmoid tumor due to a mutation on the APC gene, where the FAP mutation is also found. Mutations may also be found on the beta catenin gene that may also cause desmoids to develop.
Desmoids have similarities to cancerous tumors called fibrosarcoma but are benign as they do not spread to other body parts. Desmoids develop in the connective tissues of the body anywhere in the body. Superficial desmoids are typically less aggressive than deep desmoids in the abdominal, extra abdominal or mesenteric areas. Deep desmoids look like dense scar tissue and are difficult to remove as they adhere to surrounding structures and organs. Although desmoids are benign, they can be life threatening due to compression on organs such as intestines, kidneys, lungs, blood vessels and nerves. Repeated irritation or trauma to a certain body area may increase the risk of a desmoid developing. Desmoids may grow slowly or rapidly and at times may even shrink without any treatment. Depending on the size and location, desmoids may have no symptoms or may cause:
- painless swelling or lump
- pain or soreness caused by compressed nerves or muscles
- pain and bowel obstructions
- limping or difficulty using extremities
It is recommended to be evaluated by a doctor and hospital that has expertise in sarcoma. Preferably, the medical team for someone with a desmoid would include medical oncologists, surgical oncologists, radiation oncologists, geneticists and nurses. The Desmoid Tumor Research Foundation has resources and clinical trials for those with desmoids and also may help finding a doctor with expertise in sarcomas in the United States and the Desmoid Foundation of Canada is available for those residing in Canada.
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| A Desmoid removed from a FAP patient and friend of Jenny's Measuring 1.234 kg & 25 cm |
- If possible, don't let anyone excise a lump without knowing what it is first
- Don't let anyone surgically remove a Desmoid unless surgery is life preserving
- See a Sarcoma Oncologist with Desmoid Expertise, preferably a Medical Sarcoma Oncologist versus a Surgical Sarcoma Specialist
- Understand that Desmoids are different for individuals with FAP
- If you have FAP and Desmoids, only have biopsies done of potential Desmoids when necessary and only have surgery, when necessary, as both risk Desmoid creation and/or growth
This is a Guest Post by Esten Gose with Familial Adenomatous Polyposis and a Desmoid Tumor
I was diagnosed with Familial Adenomatous Polyposis/Gardener's Syndrome (FAP) at
age 10. I am the first person in my
family to have FAP due to a spontaneous genetic mutation. Around that time, I
had a tumor removed from my right jaw.
Ever since
my diagnosis, I have had yearly or bi yearly colonoscopies and endoscopies to
keep an eye on my colon and the surrounding area. In 2004, after my annual scope, my
gastroenterologist told my family and I that it was time to remove my colon. We
were told that I would likely die if we didn’t.My parents and I traveled to the Cleveland Clinic in Ohio to have the procedure done there, as at that time, The Cleveland Clinic was a top hospital for treatment of FAP patients. We also chose to have it done there because they were one of the first facilities to perform laparoscopic surgery, and it was done as a “pull through” where the colon is removed and the small intestine Is attached to the rectum. Having it done that way, we were able to shorten the recovery time from about a week, to about 3 days.
A few days
after we returned home to Seattle, I missed a dose of the pain meds I was given
to help with my recovery after they surgery. Missing that dose ended up saving
my life, as I began having massive abdominal pain, and was take to urgent care.
After various tests, I was rushed to the ER via ambulance for emergency
surgery. A small hole had developed where the small intestine was fused to my
rectum, and I had a massive infection in my abdomen.
That surgery
saved my life, and my doctors and nurses told me that when I arrived in the ER,
I was in sepsis and no more than an hour from dying. The emergency surgery that
was performed gave me a temporary ostomy, with the goal of giving it 6 months
to heal and performing a reversal.During my reversal surgery 6 months later, my surgeon stopped the procedure mid-way through. There was so much scar tissue, that they had to come up with another plan. They decided to give me a permanent ileostomy, which I have now had for almost 16 years.
Recently about 8 years ago, I traveled to the Cleveland Clinic to have a larger desmoid tumor removed from the right side of my abdominal wall just below my rib cage. My colorectal surgeon was able to safely remove it, and it was sent to the lab to be studied. This surgery was relatively routine, and I did not have any complications. I was hospitalized just short of a week and traveled home with no issues other than post-op pain management. This tumor was removed at a good time, as my doctors told me it was pressing on my rib cage, and nearly broke my ribs.
Fast forward to 3 years ago. I noticed a bump in my abdominal wall and made an appointment to see my doctors at the Seattle Cancer Care Alliance. Various tests were done, and it was determined the bump I noticed was a Desmoid Tumor.
This type of
tumor is usually non-cancerous but can still grow and cause problems. My oncologist suggested that we treat it with
proton radiation therapy, as surgery would be potentially dangerous. Radiation therapy can more specifically
target the tumor, so less surrounding area near the tumor is affected.
Luckily for
me, the Seattle Cancer Care Alliance here in my hometown has a Proton Therapy
Center just north of Downtown Seattle.
We scheduled an initial appointment there to go over the plan. The staff there did an initial CT scan to map
out the area to be treated, and make sure the exact site was marked. They put a few ink tattoo dots in specific
coordinates so that when I begin my treatment, the staff will know exactly
where to position the equipment.We then scheduled the treatments themselves. They would be done once daily Monday through Friday for a total of six weeks. When the day came for my first treatment, I honestly was not nervous at all. The staff there are wonderful and help make you feel very comfortable.
When I
arrived at the center for each day’s treatment, I checked in with the staff at
the front desk. You are given a bathrobe to use for each treatment visit, so
when they take me back, I would change into a hospital gown. Once the treatment room is ready for you, they
bring you from the waiting area. I would lay down on the table. The room has
lasers that help the staff position the table in the right coordinates.
Once they
are ready, the staff would leave the room to their control room, and shortly
after, the gantry above me would begin to move into position, and the treatment
would begin. The treatment itself was
100% painless and would only take 20 minutes or less each day.My nurses did advise me that beginning about a week into my treatments, the proton radiation would cause my skin to change slightly at the treatment site. It caused my skin to develop wet blisters, which were initially tricky to deal with. Since it was just above my ostomy site, I had to learn to cut my wafer a bit differently so that the skin with the wet blisters from my treatment were able to heal properly.
Fast forward to six weeks later, and my
treatment was competed. They give you a
certificate of completion, and a “Challenge coin” to commemorate your
graduation from treatment. I met with my
oncologist after the end of my treatment, and we learned that I would need to
schedule an MRI every six months for the next 5 years to check on the tumor
that was treated.
As of today,
it has been just over 3 years since I finished my treatments, and my oncologist
says that the tumor they treated has stopped growing, and even shrunk a bit. I
have 2 years left of MRI’s, and then I will just have annual visits instead.
I am extremely
grateful to my medical team of doctors and nurses both here in Seattle, and in
Cleveland. They have both been incredible participants in my ongoing medical
care.
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| Esten |
Esten Gose
is a 37-year-old with Familial Adenomatous Polyposis (FAP), born in Seattle, WA
and currently living in Snoqualmie, WA with his wife and 2 cats. He has been married to his wife Jennifer for almost
5 years. He has had his ileostomy for almost 16 years. Esten enjoys sports, traveling
with his wife, and spending time with family.
For more
detailed information on Proton Radiation Therapy visit:
This article was updated 3/31/2024 to share the photo and insights from individuals with FAP and Desmoids
