Diagnosed with Ameloblastoma

@tomschwerdt. I felt very soft tissue behind my upper right molar and in my heart knew something was terribly wrong. I asked my dentist about it a year ago. Showed nothing on an X-ray. I asked again a year later when the tissue become very soft. He said a cyst and referred me to an oral surgeon. Meanwhile there was sinus blockage, so an ENT actually felt the soft tissue in my gum at my request and asked that I see a maxillofacial surgeon who would go into the Sinus surgery with him. That Maxillofacial surgeon drained the cyst first to see what he'd be dealing with during sinus surgery, and from that we discovered Ameloblastoma. Now no sinus surgery, as I have this bigger issue to deal with. Since draining the Amelo. the next CT scan showed the sinuses opened some. They expect to take two or three teeth and if so say I need the fibular transplant. I have a good ENT surgeon but he did admit never dealing with an Aemloblastoma in the maxilla (I know rarer than others), but he is a tumor specialist for ENT. I trust this doctor and his vascular partner in surgery, but in my heart want to go to Mayo for another opinion. I have to get to my documents to look up tumor size, and will get back to you. Ive had 3 CT scans, a PET scan, 4 MRIs. Dr said the tumor has likely been there for 10 yrs.

Also: Could you share how your ameloblastoma was found, what symptoms you currently have and what analysis or treatment you've had so far. Do you have a pathology report? X-rays? Was the tumor largely removed during the biopsy? How large is the tumor?

Only share what you're comfortable with.

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.

Oh yes, any direction you can point me in in terms of the maxillary mutations would be most helpful.

This is all so much.. I am 65 as well. Tracheostomy? That's another layer. I better look that up! I live in NY so to have this surgery in Minnesota, I have to consider how I'll stay there for a few weeks to be local. I'm sure I can figure that out. You do remind me, though, that you are on the other side and now you can look back on it. I look forward to that.

My ameloblastoma is mandibular instead of maxillary, but conservative surgery bought me 15+ years of full functionality with my original jawbone.

Ameloblastomas usually grow very slowly - and 15+ years later when it came back I have (and chose) the option of genetically targeted chemotherapy: 5 pills a day. Chemo is very slowly shrinking my ameloblastoma. I'm much more comfortable with the chemo side effects than radical surgery.

Everyone has to make their own choice.

Important note: Mandibular ameloblastomas (including mine) mostly have the BRAF V600E mutation. Maxillary ameloblastomas generally have different mutations. When I did my deep dive into the literature, I focused on mandibular because that's what I have. LMK if you want help looking into the mutations behind maxillary ameloblastomas.

The feeding tube is a bit annoying I agree, but nothing you can't handle. I wrapped the outside piece over my ear when showering or not in use. Plan for one hour meals and you will take ground up meds through the tube as well. I was 65 when I had this done. Piece of cake. Well, perhaps an entire cake.
For me I didn't like the CAM boot as it was clumsy and often banging into things.
You will have a tracheostomy which should be healing when you leave the hospital and you have to be careful taking a shower as to not get soap in there.
Dr.'s Arce and Ettinger were my team as well. You will never meet nicer surgeons.
My wife has reminded me she had to peal me off the ceiling a couple of times whilst dealing with the feeding tube. Likely so. But I had mine for three weeks and we live five hours from Mayo Clinic so lots of driving.

They, at Mayo, are the best. From the surgeons to the surgical floor and nurses. There is a place right across the street from the hospital we stayed in and was very convenient for my wife. I’m in Colorado and fly back once a year for follow up.

@hrhwilliam I can see what a great support you are to everyone on this forum, so thank you for your response. May lean into this group as I get closer to treatment. It's a lot, as you know! Part of a club we never asked to be in... I plan to reach out to Mayo Clinic, Dr. Arce. I only worry about the distance to get to my care team if there's any complications later, since I'm in NY. PS I am terrified of this feeding tube. To me that's the most frightening part now. Maybe because that was only just mentioned on my last visit.

@therock. thank you for your response. I am reaching out to Dr. Arce and the Mayo team for a consultation. Assuming that Mayo can recommend a place for you to stay. I'd be coming from NY. I worry about needing to get back to Minnesota in terms of distance and time if I needed them. But aside from that, willing to travel to get the best care. I do worry that "surgeons do surgery" and will they take a conservative approach if possible? On the other hand, who wants to do a surgery a second time, so maybe the radical surgery is better now.... I'm 65 but active and in great health, still working and travel quite a bit for my job. Hard to know what to do.