Lack of Lynch Info

As I am revising the GI system, I keep feeling a bit irritated by the lack of information we were given in regards to HNPCC, or Lynch Syndrome. Normally, the less info I need to shove into my brain, the happier I am, but we were literally only told to remember a few things about Lynch Syndrome. It's caused by a mismatch repair gene dysfunction, and it is associated with colon cancer. That's it. Having done my entire Senior Thesis project on HNPCC, I feel like the pathology associated with HNPCC should be presented more in depth. But I suppose I am a bit biased...

Lynch Syndrome is, in essence, the reason I decided to become a doctor. The kindest, most compassionate, and most giving person I had ever met passed away because of colon cancer. She was my aunt, and she was young. My grandmother passed on because of colon cancer the same year that my parents were married; my uncle has recovered from colon cancer, my 28-year old cousin is battling against colon cancer, and another aunt of mine is now battling this cancer for a third time. I've even had an 11-year old cousin diagnosed with Medulloblastoma (which can be associated with Lynch Syndrome). Clearly, colon cancer is strong in my family, and because of that (according to the Amsterdam criteria), we are categorized as a Lynch Family. As such, there are many cancers to which we are predisposed, including the obvious colon cancer, but also endometrial, ovary, stomach, small intestine, brain, urinary tract, and skin cancers. This also means that we need to visit several doctors annually to check for any possible malignancies...including annual colonoscopies starting at the age of 18. The frustrating part is the fact that there have been several doctors that I have come across that don't know much about Lynch Syndrome, and certainly don't know the associated increased cancer risks. In fact, my dad went to a dermatologist who knew nothing about what to look for in a Lynch patient. Hellooo, derm is one of the most difficult specialties to get into, and he doesn't even know that Lynch syndrome can predispose you to skin cancer!? There must be something wrong with our education...

So what are the things that I wish all doctors knew about HNPCC/Lynch Syndrome? Many doctors need to be able to assess these patients' risks, because there are many links to cancer, not just of the colon (Gastroenterologist), but also of the endometrium and ovary (OB-GYN), stomach and small intestine (Gastroenterologist), brain (neurologist), urinary tract (nephrologist), and skin (dermatologist). It's an autosomal dominant defect in mismatch repair, with a mechanism of action as a two-hit occurrence. In a patient with the Lynch genetic predisposition, there is a 90% chance that he/she will develop cancer during his/her lifetime, and it is likely to happen at an earlier age than the general population. They need to have annual screenings, and they need each of their doctors to know what to specifically screen for. If an OB-GYN, take an endometrial biopsy during each annual visit; as a dermatologist, specifically screen for skin cancer (and do a thorough check) and remind the patient to check his/her skin monthly; as a GP, get a urinalysis check for abnormal cytology that may indicate urinary tract cancer and also monitor for any neurologic changes which might suggest a malignancy in the brain.

I guess a big reason why I'm such an advocate on educating fellow future-physicians is because I had an adenomatous polyp removed during my last colonoscopy (in March), located in the right side of my colon. While I can't say conclusively that I have the defective mismatch repair gene, I do know that my risk of developing colon cancer is real. Adenomatous polyps are precancerous lesions. It was removed and biopsied, so it didn't have the chance to grow into a malignant lesion this time.

While you can't distinguish between an adenomatous (precancerous) polyp and a hyperplastic (noncancerous) polyp on gross visualization, this is what my little polyp looked like from the endoscope's point of view:
(The polyp is the little bump in the bottom right picture):

Nasty little shit, isn't it?! ;)

I hope you all learned a little bit more about HNPCC/Lynch Syndrome and how to better serve your future patients!