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Diagnosed with Ameloblastoma

Head & Neck Cancer | Last Active: 5 hours ago | Replies (260)

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@la93

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

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Replies to "Oh yes, any direction you can point me in in terms of the maxillary mutations would..."

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.

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.