Diagnosed with Ameloblastoma

Okay, I did some digging on the NIH PubMed site. Below are some papers to start with - and especially to share with your doctors. I showed up to MD Anderson with a stack of research papers I had printed out (and a set of links available as well).

You have a rarer type of an already very rare tumor. Maxillary ameloblastomas are thought to be 15-20% of all ameloblastomas.

Good overview/starting point for maxillary ameloblastoma: https://pmc.ncbi.nlm.nih.gov/articles/PMC7652510/

As I mentioned earlier, mandibular ameloblastomas tend to have a BRAF mutation. According to the papers I've found, maxillary ameloblastomas tend to have a SMO mutation, specifically "SMO encoding p.Leu412Phe" per the paper and linked with the Hedgehog signalling pathway. I believe that this mutation is also referred to as "SMO L412F". More rarely, it could be SMO-W535L.

Overview of mutations in ameloblastomas: https://pmc.ncbi.nlm.nih.gov/articles/PMC4418232/

In some other cancers with this mutation, SMO inhibitors have been used as targeted chemotherapy. I haven't dug into how effective they are. The three I've found which are FDA-approved to treat some kind of cancer are Vismodegib, sonidegib, and glasdegib. They're not likely to have specific approval for ameloblastoma, so a doctor using them to treat ameloblastoma would be prescribing "off label" - which is actually pretty common.

My initial understanding is that the SMO mutation triggers overactivity in the Hedgehog pathway and the targeted therapy drugs slow it down.

Targeted therapy for SMO ("Smoothened") mutation cancers: https://pmc.ncbi.nlm.nih.gov/articles/PMC9605185/

Reminder: I'm not a medical professional. I'm just a former research scientist in a very different discipline, doing a basic literature search and reporting what I've found.

These days I oversee more than a dozen research projects which others are leading/heading up. I haven't done hands-on research in years.

Thank you for this @tomschwerdt. Doctors Arce/Ettinger removed a maxillary ameloblastoma in my right sinus cavity, via FFF, in July 2021. While I have no proof/evidence, I believe the ameloblastoma tumor was triggered by the extraction of Tooth #3 (6 year molar) in January 2015. The tumor was first discovered during a pituitary gland MRI and subsequently removed (the first time) by my ENT in June 2020.

Now separately, I am facing root resorption in Tooth #30 (also 6 year molar), directly below my Tooth #3. My dentist and endodontist have recommended extraction as the only option once #30 becomes problematic. Right now, I am not in pain and only aware of the resorption when I brush my teeth back there (no pain, just a slight "ting"?). I usually eat on the left side of my mouth because of the prosthetic appliance (Dr. Muller in Mayo's Dental Specialties) so #30 is not a problem...yet.

Given my prior Ameloblastoma tumor, I have inquired about genetic testing as referenced here: https://www.mayocliniclabs.com/test-catalog/overview/608305 and here:
https://news.mayocliniclabs.com/2018/08/21/neuroonc-cases/ when I am in Rochester in a couple of weeks from now.

Has anyone else pursued genetic testing related to ameloblastoma propensities?

reading back on your posts @kkd and @the rock, since my Maxilla Amelo surgery is upcoming end of August... I'm considering Zygomatic implants which means they believe they can do a flap using skin from my arm rather than the FFF and leg bone transplant... Dont know if this is a rather new choice, as I've only seen one other person in another Amelo group who had the arm tissue transplant.

@hrhwilliam
Thank you for the support and quote! I have been doing lots of research which can be quite daunting at times. I think my main fear is the fact that will I ever be the same again after the surgery both physically and mentally? How long did it take for you to confidently say you have fully recovered?

I had a 1”x 3” section of lower right mandible removed in 2021 along with a 1”x3” benign unicycistic ameloblastoma cyst, and 3 teeth. The replacement is a 5 tooth permanent bridge with a small space below it for cleaning and future access. My biggest problem was with payment. By the time you get to “benign.” your only thought is to get it out as soon as possible! I had Medicare Advantage PPO Dental Insurance and a Physicians Mutual dental insurance policy. The approximate cost was $10,000 to take it out and $10,000 to fill the hole. Problem was that UHC said it was a dental issue as did PM. It took nearly 4 years of fighting with the insurance companies to prove to them that their own rules define unicycistic ameloblastoma as a medical condition. Of course, if you want definitive answers and course of treatment, payment is due upon receipt of treatment. In the end, UHC came through with $2000 by way of their appeal process.

Hey, thank you so much for sharing your story and insights I do appreciate it so much!! I’ve currently had the jaw reconstruction and a few other surgeries, recently they took my hip bone out and put it in my jaw as my previous surgeries had failed. I can also confirm insurance always tries to be sneaky😭