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922679 tn?1249089446

Colon Polyps at 22 & 25 - am I a mutant?

At the age of 22 I underwent EGD and colonoscopy to evaluate stubborn stomach pains and irregularities.  The EGD showed h. pylori, and the colonoscopy revealed 2 small, adenomatous polyps.  I was told to have another colonoscopy in three years, and that occurred yesterday.  

I hoped and prayed that it would come back clean, but alas, it did not.  In the three short years since my last torture session, I had grown two new "medium-sized, polypoid, broad-based polyps."  We're waiting on the pathology report, but I'm thinking I'm pretty safe in assuming that those two are also adenomas.  That means that I've had four adenomatous polyps removed by the age of 25.  

Something is definitely not right here.

From what I can tell, people my age just don't get these types of polyps.  All of my resources indicate that this situation is EXTREMELY rare, and highly suspect for genetic causes.  Trouble is, nothing in my family history gives any indication of a genetic component - none of my extended family have had cancer or even polyps.  My siblings have not yet been screened, although I am urging them to.

I know that as long as I keep going back for the coloscopies as recommended, my odds of actually developing cancer are extremely low, so I know I'm not in imminent danger.  Plus, I realize that knowledge of the etiology will have no effect on the management of my situation - it is admittedly mostly to satisfy my curiosity and give me an answer to the question I keep asking the cosmos: "WHY??"

So, what do you think is the likelihood that I am the lucky carrier of a fresh, new mutation of one of the HNPCC-causing genes?  Or, rather, what is your take on my whole situation?  I'm trying to be level-headed about this.  My own gastroenterologist who did the colonoscopy didn't say a single word to me either before or after the procedure.  The findings were read to me by a nurse.  Since it's the weekend now, I'm groping for information, opinion, reassurance, anything.

Thank you!
7 Responses
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322973 tn?1239904438
MEDICAL PROFESSIONAL
Hi,
You have been fortunate that the polyps have been identified and removed before they could cause any further trouble.
You are also right in wondering about the underlying cause. A set of criteria called the "Amsterdam Criteria" are sometimes used to identify persons who would be candidates for genetic testing for HNPCC. However, you do not have any family history of colon cancer.
You should seek an appointment with a genetic counselor who would discuss the pros and cons of these tests with you.
Please feel free to post follow up questions if you need any specific information.
All the best, and God Bless!
Helpful - 1
922679 tn?1249089446
The polyps removed thee years ago were "polypoid colonic mucosa having tubular and adenomatous configuration of glands.  There is increased stromal lymphocyte and plasma cell infiltration.  No malignancy is identified."  They were both sessile, located in the transverse colon, and from the pictures I have, I can't really judge the size.

And here's where you're going to laugh at me or just roll your eyes and groan... the pathology report on the most recent polyps isn't back yet (probably another week before I get a hold of the results).  All I know is the gross description: "two medium-sized, polypoid, broad-based polyps..."  (is broad-based the same as sessile?)   I have a picture of one of the polyps, and it looks similar to the ones I had before, except larger.  I know it is impossible to accurately judge the histopathology based on gross visual examination alone, but taking into account my prior history, I would personally be surprised if they were not also adenomas.  

So, yes, most of this panic and speculation is based on a guess.  I'm an anxious wreck, but whatever happens - adenomas or not, genetic syndrome or not - I have to wait on everything for at least a week until those results come back.  :(

I'll post them here as soon as I find out.
Helpful - 0
322973 tn?1239904438
MEDICAL PROFESSIONAL
Hi,
Any guidelines or criteria are merely standard suggestions for the treating doctor, and not meant to over-rule clinical judgement. Please discuss with your gastroenterologist and genetic counselor. If you so decide, you may still go ahead with the genetic analysis.
Could you let me know the exact histopathology reports of the polyps removed on the two occasions.
Good Luck!
Helpful - 0
922679 tn?1249089446
Dr. Saini, thanks for your prompt reply.

I find it odd that the Amsterdam Criteria would really only include those whose history alone ought to be sufficient evidence of genetic causation... making the test only confirmatory and excluding any diagnostic potential.  I realize that genetic analysis is not a practical screening tool for the population at large, but in a person as apparently anomalous as me, I do not see why it would be unwarranted.  After all, not all genetic disorders are inherited - there is plenty of room for de novo mutations, and the Amsterdam Criteria does not account for that.  

Sorry - I'm not meaning to contest you, I'm just ranting about something that seems a bit silly to me - strictly following guidelines and protocol when the situation at hand might call for a different approach.  All that being said, it might be easy for me to get the testing done.  Who knows.

On a slightly different topic, after my coloscopy on Friday, I was instructed to have another done in three years.  Considering that it only took me 3 years to grow 2 new medium-sized polyps (from my understanding, it usually takes 5), I wonder if the three-year interval is appropriate.  Would knowing about a genetic cause affect much?  Would I have to go in more often?  Less often?

At this point, I guess it's all just speculation, and you're probably not the right one to ask.  I should probably wait to get in contact with my gastroenterologist.  I'm just a bit anxious because, as I'm sure you realize, this sort of thing can be pretty scary for a 20-something.  No one my age wants to be worrying about colon cancer, polyps, and colonoscopy.  :(  It isn't fair.  It's a bit depressing because it's so unusual that I feel alone in my circumstances.

Anyway, sorry to ramble.  I suppose I don't have any follow-up requests for specific information at this time.  Maybe I'll have some later on.  Thank you for indulging me, and if you have any additional thoughts, I'd love to hear them.  Otherwise, I'll report back if I have further questions.  

Thanks.
Helpful - 0
322973 tn?1239904438
MEDICAL PROFESSIONAL
Hi,
It is good that no malignant cells were identified in the polyp. I will review the new pathology report when you post the same.
Good Luck!
Helpful - 0
922679 tn?1249089446
The results are in.

I don't have the exact wording, but they were both hyperplastic polyps.  (HUGE SIGH OF RELIEF)  So, the adenomas 3 years ago were still really weird, but since this colonoscopy was, for all intents and purposes, clean, my understanding is that I need not be so worried about any serious genetic cause or predisposition for cancer.  My GI doc also said that by some standards I might not have to go in for another colonoscopy until I'm 50 (in 25 more years), but that he likes to err on the side of safety and recommends that I go back again in 3-5 years.

So there it is.  These most recent polyps were benign.  Nothing.  Now instead of freaking out that I might have some horrible genetic syndrome, I can rest assured that nothing dubious is going on right now... and just let it go for another 3-5 years.
Helpful - 0
322973 tn?1239904438
MEDICAL PROFESSIONAL
Hi,
Great to hear this!!
Good luck wishes (several years in advance!) to you for the next round of colonoscopy.
Helpful - 0

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