Cowden Syndrome – PTEN gene

AlaskaDeb

Cowden Syndrome – PTEN gene

Has anyone been tested for this? I went in for genetic counseling and I am getting the normal Braca1 and 2 testing, but when the doc looked at my family and personal history, she said I also need to be tested to see if I have Cowden Syndrome, another, more rare gene alteration that can lead to breast cancer. It also has lots of other types of diseases and problems associated with it…many of which are present in my father’s family line.

She said it is rather rare, and most likely I will test negative, but there are enough signs of it for me to be tested. I guess that it must be rare because she is signing me up for a clinical trial for the blood test.

I’m not totally stressed about this, but more than a little bit curious since I have never heard of Cowden Syndrome. Anyone have any experience with this???

Deb

moogie

Try to PM LEAF, I think she has researched lots and probably has come across some information on this topic. She's very good at compiling studies.
Moogie

Beesie

I tested negative for BRCA1 and BRCA2, and in looking at my family history, the genetic counsellor said that the other condition that I might have, though unlikely, was Cowden's Syndrome. I did a lot of research and decided that I wouldn't be tested. The reason I decided that is because unlike BRCA, which would put me at high risk of ovarian cancer, which I would have to address, Cowden's main significant risk is BC, which I already know about and already monitor.

I also looked at the list of Cowden's symptoms, and other than my BC and my brother's thyroid cancer, I didn't see any other symptoms that would indicate that we have Cowden's in my family. The most common symptom is a variety of head/facial/skin lesions and deformities; mental retardation is also quite common. None of that is found in my family (jokes about intelligence aside!).

Quote:

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Cowden syndrome is a rare disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.

Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. Abnormal growths on the skin and mucous membranes typically appear by a person's late twenties.

People with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and the lining of the uterus (the endometrium). Noncancerous breast and thyroid diseases are also common. Other signs and symptoms of Cowden syndrome can include an enlarged head (macrocephaly); a rare, noncancerous brain tumor called Lhermitte-Duclos disease; and mental retardation. http://ghr.nlm.nih.gov/condition=cowdensyndrome;jsessionid=A07140889F377CF208087155BF9D8BA7

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Quote:

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SIGNS & SYMPTOMS: Almost all people with CD will have hamartomas involving the skin. These hamartomas can appear as small flesh-colored, flat-topped, wart-like lesions around or inside the mouth, on the tongue, on the back of the hands and feet, or on the palms and soles. Lipomas, which are noncancerous fatty growths, can also occur.
The head is large in 80% of patients. The growth of a hamartoma in the brain can cause the head to enlarge in infants. Loss of balance and coordination due to increased brain pressure can occur in older children. This can lead to serious complications if not treated. Developmental delay and learning problems can also occur.
Sixty percent of patients with CD have involvement of the thyroid with goiter formation, which is usually noncancerous growths and fluid filled cysts. Thyroid cancer does occur in 7% of patients with CD.
Seventy-five percent of women have noncancerous growths in their breasts; however, breast cancer does develop in 30% of women. Ovarian cysts and uterine fibroids also occur and 5% of women with CD develop endometrial cancer. Seventy percent of people with CD have polyps in the intestinal track, but colon cancer is a rare occurrence. Up to 10% of patients have eye problems such as near-sightedness or cataracts. Bone cysts, a small jaw and curvature of the spine are seen less commonly. http://www.madisonsfoundation.org/content/3/1/display.asp?did=537

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Hope that helps!

AlaskaDeb

This is weird because my dad's family has almost all of the things listed. The trial I am going into is to try and see if there is also a connection to Melanoma, Brain Cancer and higher risk of mets after DX for those cancers and breast cancer.

I am curious if anyone else has been tested or is in this trial

Deb C

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crosspoint7

My son is recently diagnosed and I am waiting on the result at this point.  I have had breast cancer, as well.  I also am told that this is extremely rare.  My son has precancerous polyps almost all over his esophagus; has had several precancerous polyps removed from other areas.

MelissaDallas

I was tested for CHEK2 & PTEN before BRCA because the counselor thought them more likely. My Dad's mom & sister both had colon cancer & I had ovarian cancer so they were concerned about Lynch Syndrome. I tested negative for everything.

numbersinger

I was tested approx. 10 days ago for BRCA but do not have results back yet.  At the time I was tested the counselor spoke to me about having the PTEN test done as she said I have a large head.  I really think that I have very thick hair

She thinks that my BRCA test will be negative.  Since I already have breast cancer, I do not think I will have the test done because I am already being closely monitored for other cancers.   

Rdrunner

I have had the braca done waiting for results. They are also considering pten /cowdens and e caderhin mutation . They want to wait for braca results though and waiting to get a sisters file from out of country. I actually had a huge harmatoma in my breast, have had some other things that would indicate cowdens

CynthiaM

Hi,

I have recently tested positive for a mutation on the PTEN gene as well as a variant. As if this gene mutation wasn't rare enough both my parents tested negative for the mutation, although my mother had the variant. Apparently gene mutations can happen in rare cases during conception! It does explain why there is no family history of any of these symptoms and yet I was diagnosed with breast cancer in both breasts at the age of 30. Even though I had already gone ahead with a bilateral mastectomy prior to the blood test, I decided to have the test for the sake of my sister, mother and 3 nieces. Despite my parents negative results they still went ahead and tested my sister to be sure that this didn't occur in her too. Although she doesn't exhibit any of the symptoms and traits I do. I have small wart like bumps on the palms of my hands, prior to breast cancer I've had a history of benign breast tumours, I have a goitor on my thyroid and although I have never had any learning disabilities I definitely have a big head. Finding hats to wear during chemo was not fun!

Although a negative test result would've been better, I'm happy I did this because I'm now guaranteed a thorough screening protocol which I'm sure would not have been the case as I'm 31 years old.

Is there anyone else out there with a positive result?? Any more mutants?? ( My oncologists label not mine. I had to laugh....but where's my super power then!!??)

Cuetang

hey cynthiam-- fellow gene mutant here .  I just found out a few months ago as well, since I'm 34, my oncologist pushed for further genetic testing.  Your story reads very similar to mine.  My hubby calls my superpower "tumor girl" (why couldn't I get a better power instead?).  I recently asked my MO about tamoxifen, since the pten mutation increases the risk of uterine cancer....and tamoxifen also has those risks.  I'm being taken off tamoxifen now and will be adding Femara instead (only possible because I'm doing ovarian suppression too).  It won't be fun doing all the medical tests at an earlier age (oh boy colonoscopy!)

CynthiaM

Cuetang - I asked my MO the same thing about tamoxifen at my last appointment and she said we needed to treat the cancer we know about and not the one that's not there. I kinda saw where she was coming from as apparently it only raises your risk by 1%, but then again when your risk is somewhere between 5-10% already that seems pretty huge to me! I took that to mean that there was not an alternative to tamoxifen for pre-menopausal women, I did not know about Femara, which I'll definitely ask her about next time. I hope it's not a case of it's not available in Canada!

I completely agree with you. Even though the past year has definitely made me completely used to every scan possible (ultrasound, MRI, mammogram, CT scan, bone scan....I've had them all several times over!), but a colonoscopy is something else entirely!!!

Out of curiosity were you given any "statistics"? My gene doc listed some "population averages" for me but at the same time told me everyone can have different levels of risk and they just don't know too much about this gene yet. They told me my risk of breast cancer could have been anywhere between 20-90%. It's very frustrating that they lay this news on you and then don't have much information behind it! 

melp27

hi cynthiam

Yes ive been tested for this gene and am positive for cowdens syndrome. My dad also has this mutation. I have the large head and bumps on my skin. Im 30 so its good to know so the appropriate screenings can be scheduled in the future. Have already had breast cancer and have a fibriod but ive been through alot even before I knew about cowdens. We do have a family history of breast cancer but it was still a shock.

Cuetang

Cynthia--sorry for the delay in the response as I don't have this thread pinned for alerts.  I don't have the numbers next to me, but yes, the breast cancer risk ranged anywhere from upwards to 85%.  I've had thyroid issues since the mid-20s, so that's gone (which supposedly had the highest risk of cancer behind the breast).  I'm pretty sure you've run across it, with the colon, renal, and uterine parts of it too.  I was given numbers by the genetic counselor, but I think she pulled them off the same places I looked (such as the Cleveland Clinic), and the ranges really do vary.  My oncologist went back to the tumor board and asked them about my risks on staying with tamoxifen.  They all agreed there was no concrete evidence about it, but since I already am at risk, why put an additional risk on top of that. 

Melp-- sorry you got nailed with this same stupid gene!  I have had bumps on my nose since my late teens (always attributed it to bad acne).  I think it's still a shock just to be stuck with the words "you have cancer", particularly at our age.

Akitagirl

Hi Everyone,

I have recently tested positive for PTEN mutation - interesting history:  brain tumor 1995 and 2005 recurrance.  However, this was an epidermoid and not a meningioma or glioblastoma.  Also, had a stroke in Nov 2013 - not sure if there is any correlation, but I am on blood thinners for the rest of my life.  Diagnosed with melanoma-in-situ a week before I was dx'd with IDC which was three weeks before I was diagnosed with discoid lupus.  Not all of these seem to fit into the Cowden Syndrome spectrum.  Of course, I really don't fit into any spectrum and that is just fine with me.  :-)

Trying to keep my sense of humor.  Meet with the genetic counselor next week...we'll see what she says.

Akitagirl