PTEN and Cancer Connections

PTEN and Cancer

PTEN…the gift that just keeps on giving.

Seriously. It can stop now.

After some research and discussion, we believe that my father is most likely the one that passed on the PTEN mutation to me. He fits many of the physical criteria–high-arch palate, lipomas, skin tumors and cancers, colon cancer, etc–and so there seems to be a high probability that he carries the mutation.

And now he also has a new symptom, bladder cancer. Although not included in many of the lists for cancers related to Cowden Syndrome, new research is apparently connecting it to the PTEN mutation as well, at least according to my genetic counselor. The counselor emphatically stated that for a patient to have both colon and bladder cancer–with me as a family member, of course–both of his cancers were probably caused by the PTEN mutation.

So my fellow PTEN’ers and researchers, add bladder cancer to your list of things to be wary of.

And as far as my father’s cancer is concerned, I am grateful to say that his was Stage 0, Grade 1. They caught it early, and it is not an aggressive form of cancer. If you have to have cancer, then that’s the best news that you can get.

He’s already had the surgery to remove the tumor, and he most likely will not have to have any further treatment other than regular follow-ups.

So good and bad news continues in my family. Still more cancer, but my dad was very lucky this time. And I am happy to have him in my life for awhile longer.

 

PTEN and Feminine Issues?

PTEN and Feminine Issues

So the hysterectomy happened…

I have had many surgeries during my lifetime, but I can unequivocally say that this was the most painful one so far. I spent a couple of nights in the hospital and have been recuperating since then.

Although I could discuss the emotional impact of the surgery, I am honestly still trying to figure that out at this point. So I’ll stick with just the facts for now.

When my gynecologist reviewed the pathology report, she stated that she had never seen reproductive organs that were so diseased and covered in tumors. All of it was benign, but it was everywhere. Considering the extent of the problems, she said that this would explain the extreme pain and heavy bleeding that I experienced each month.

Here’s just a sampling from the pathology report:

  • Endometrial polyp, benign
  • Benign inactive indeterminate pattern endometrium
  • Leiomyomata
  • Adenomyosis, florid
  • Endometriosis and fibrous adhesions
  • Ovary with a benign mucinous cystadenoma, endometriosis, and serosal fibrous adhesions
  • Fallopian tube with serosal endometriosis

It goes on and on, but that should give you an idea of what they found. If you’re having trouble wrapping your head around all of those terms–like I was, to be frank–I was told that the disease and tumors were so extensive that my uterus could no longer function as a muscle, that it was simply a sponge. And that was only one part of the entire problem!

I have had painful and heavy periods my entire life, and at no time did any of my regular exams find anything. When I would try to explain my issues with a gynecologist, I was dismissed, with the doctor saying that my reproductive system was “healthy” and I was most likely exaggerating.

Too, after my first cancer diagnosis, I had difficulty finding a gynecologist who wanted to treat someone with a history of breast cancer at a young age. But that’s a whole ‘nother problem in itself.

So the question at this point is this…is all of this related to Cowden Syndrome? I did find this article that references gynecologic problems related to the PTEN mutation, but it only mentions uterine fibroids.

Hopefully further research on the PTEN mutation will shed more light on its gynecological impact.

For those women who have been diagnosed with Cowden Syndrome, however, it may be advisable to push your doctor for more tests than the regular yearly exams, especially if you are having serious issues with your periods. It is certainly possible that all of the disease found on the path report was unique to me alone. But I would hate for another woman to go through 30+ years of awful monthly visits from “Aunt Flo” before they discovered the problems with their reproductive system.

When it comes to rare disease, I guess the final lesson is to take charge of your healthcare and make sure you are getting the treatment you need.

 

Mutation Certification Letter

mutation-certification-letterI have received what I jokingly refer to as my “Mutation Certification Letter.” Part joke, part reality. It is a letter from my genetic counselor explaining the PTEN mutation, along with the diagnostic criteria and symptoms of Cowden Syndrome. Additionally, the letter includes a list of the scans that should be performed in the future to screen for any problems that might arise.

As you can imagine, it is quite a lengthy letter. Part of the reason for the delay in receiving it appears to be that the letter was returned by the post office for insufficient postage. Yes, it’s huge.

Toward the beginning, the counselor describes Cowden Syndrome as a “cancer susceptibility syndrome.”  Seriously. My radiation oncologist asked me if I felt like a “tumor factory,” and I had to nod in agreement.

Cowden Syndrome puts me at risk for a variety of cancers as well as having a second cancer, both of which have proven true in my case. My doctor said that the chance of my having Invasive Ductal Carcinoma (Triple Negative) and Inflammatory Breast Cancer were astronomical, however, even with the mutation.

Regarding the “second cancer,” I was a bit confused after reading the letter and the literature online. Does it mean a second breast cancer? Or another cancer elsewhere?

So I asked my oncologist if I had now fulfilled my “quota” for the second cancer. We both laughed a little at my wording of the question, and then she began to explain the studies. Most of the second cancers found have been in older patients; living longer, they are more likely to have another cancer, with or without a  genetic mutation. Still the research does point to one thing: I’ll probably have yet more cancers in the future due to the PTEN mutation.

Attempting to lighten the mood a bit, my oncologist went on to say that I have a mutation, but I’m not a “mutant.” I responded that she was giving me radiation treatment and so I could become one soon, à la the Incredible Hulk. She seemed a bit surprised at my response, probably along with being a tad weary of radiation jokes.

What else can you do, though, but laugh about the craziness of it all? As Julie Manning says in her newly released book, My Heart: Every Beat Surrendered to Our Unchanging God,

“This life is truly just a breath.”

Frankenstein or not, I’m still here, and maybe something good can come out of all of this.