Any experience with targeted therapy for BRAF V600E mutated tumor(s)?

I'm tagging @dgruk @duckduck2020 @audrapopp as they have experience with BRAF V600E mutated tumors.

@tomschwerdt, like others have mentioned, it seems odd that a growing tumor of abnormal cells is not categorized as cancer. Have you questioned this and received an explanation? I'd like to understand better.

Hey @colleenyoung - I have not gotten a solid answer on that question. My original hypothesis was that ameloblastomas don't metastasize, but that was wrong. A small portion of ameloblastomas do metastasize.

Is there an oncologist who participates here that we could ping?

Had my initial surgery yesterday - early discussions called it a "biopsy" - but it was officially designated "removal for lesions" - likely to be weeks before lab results are in.

Initial results are in after the initial pathologist sent it to a specialty pathologist - yes, ameloblastoma.

Unfortunately, the specialty pathologist didn't specify the subtype - my oral surgeon is after him to get more detailed.

For those interested in a simple chart of the subtypes: https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-019-0041-z/figures/1

Hello all!

I've been participating in the Ameloblastoma thread in the Head and Neck group since May 2023. Ameloblastoma is extremely rare. Short version: Tumor grows inside bone in the mouth region, most often the mandible (jawbone.) Conventional treatment is either conservative (jaw preservation) surgery, or more radical surgery which generally has significant morbidity but reduces (not eliminates) the chances of recurrence. It's a sneaky tumor. Because it is so rare, it does not get much attention.

After going the conservative surgery route in 2007, I had the ameloblastoma come back ~15 years later. I dug into the medical literature again (PubMed) and found that a mandibular (jawbone) ameloblastoma has an ~80% likelihood of having the BRAF V600E mutation. And there are now FDA approved, targeted drug treatments for BRAF V600E.

There are very few studies on targeted BRAF therapy specifically for ameloblastoma (FDA approval was based on other cancers.) All the ameloblastoma studies are tiny, the largest being 11 patients, second largest being 3. Heck, when I brought the 11 patient study to MD Anderson, it wasn't even formally published yet. I found the information from preliminary results presented at a conference.

Anyway: Results in the studies are great. Virtually every patient shows tumor shrinkage/bone regrowth. It took some doing to get started on targeted therapy, but I did. I'm told I was the first person at MD Anderson to get targeted BRAF therapy for ameloblastoma.

Fortunately, targeted therapy is working well for me, if slower than I would like. Ongoing regrowth shown in the CT, including the followup a few weeks ago.

October 8th will be 1 year on the Mekinist + Taflinar (dabrafenib + trametinib) and we're far into uncharted territory. None of the studies have BRAF treatment even half as long. I believe I am the world record holder for longest targeted BRAF treatment of an ameloblastoma. Not something I ever aspired to, and I would LOVE for you to prove me wrong.

Many of the ameloblastoma patients in the targeted BRAF treatment studies were eventually given conservative surgery. Some had complete remission and just ended the BRAF therapy and went home. All of the studies are too recent for any long-term followup.

I just really don't know where things are likely to go from here. My original oncologist has left MD Anderson to head up a new cancer clinic. I have been assigned to a new oncologist, but I won't meet them for a month.

I am very interested in hearing from anyone who has been on BRAF V600E targeted treatment for their cancer. How long were you on it? Are you still on it? How well did it perform? What were your side effects? Did you try any additional therapies (surgery, conventional chemo, radiation, etc)? What else should I know?

Thank you.

-Tom

Hello Tom,

My Ameloblastoma tumor came back positive for the BRAF V600E mutation. I'm meeting with an Oncologist now to discuss using targeted therapy with Mekinist and Tafinlar to shrink the tumor. My biggest hurdle to starting treatment is getting my insurance company to cover the cost. (As you know these drugs are VERY expensive.) So how have you managed financing for over a year? Does your insurance company help? Did you receive help from Novartis or some other source? Any suggestions you can give are much appreciated.

Thank you,
Marion

Hi, Marion!

I was surprised that my insurance didn't object to paying for most of the drug costs. I also signed up for the Novartis copay assistance card, which covers the rest. It appears they've rearranged things somewhat since I signed up.

I would start here: https://www.copay.novartisoncology.com/

If that doesn't work out, overall options are here: https://www.novartis.com/us-en/patients-and-caregivers/patient-assistance

Hi Tom,

I know it’s been some time, but I was diagnosed with ameloblastoma last week (no subtype) and am meeting with a specialist surgeon here in Chicago tomorrow (Monday, May 4, 2026). Similar to you, though I’m 38, I wanted to know if there were treatments other than radical resection. The surgeon I’m meeting with published the *second* “jaw in a day” surgery, which is great, but still radical.

2+ years on, how are you faring?

@bellavoce were you able to get on with BRAF/MEK inhibitor treatment? If so, could you share a status update?

Tom, I hope you’re still here, your experience has given me hope in an otherwise hopeless situation.

@phillisi88 I met with specialist oral surgeons in different states but they only offered surgical options. Radical resection surgery was not an option for me because of the high morbidity. I reached out to a cancer institute and asked them to test my biopsy tissue for the BRAF mutation. They confirmed it. I was able to pursue a non-surgical route with their oncologist using Taflinar + Mekinist. Drug therapy lasted four months. Side effects were troublesome but the drugs had a definite impact on reducing the tumor and stopping new growth. Follow-up scans continue to show healing/restoration of my jaw bone and no recurrence of the tumor. If given the choice again, I would pursue the non-surgical route because it preserved my quality of life.

@bellavoce Marion, this is such great news! I'm sorry you had troublesome side effects but, in my reading at least, I would take every single one of those side effects over having my jaw resected.

In pursuing the inhibitors, did you insurance cover them, were you able to get aid from Novartis? And, pardon the intrusion, how far along was your ameloblastoma? My initial biopsy does not appear to have looked at gene mutations, given the rarity I wouldn't expect a lab to look for them, so I'm expecting to have that as part of my consult today.

I hope your healing continues!

Best,
Phil

@phillisi88 I agree! Amelo is so rare It's hard to find a specialist who is able to treat the disease let alone offer non-surgical options. My insurance company was not helpful. They said that Amelo is not classified as cancer, therefore any non-surgical approach is "experimental." They refused to cover the BRAF test. However, the cancer center I went to had funding sources so I didn't have to pay for the tissue test, genomic blood tests, or the drug therapy. My copay with Novartis was zero.

My tumor was small so they did an enucleation and curettage during the biopsy. Resection was highly advised to make sure they "got it all." I think if you want your tissue tested, you have to make a specific request. It's very expensive. I also don't know if an oral surgeon will look at genetic mutations because they consider a resection as the only cureative approach to Amelo. But, it doesn't hurt to ask.

May you find the answers and best treatment options for your situation.
All the best,
Marion