BRAF Negative? Wait…BRAF Positive?? Oh man…

Greetings Community,

Well, it's been a ringer of a few weeks.  And a few years. 

Background:

-Diagnosed over 4 years ago, with a large bleeding mole on my head. 3.8 mm. Likely caused from immunosuppresents I was on for Crohn's disease.  Crohn's has not been active in over 10 years.

-Resected this area, with local wide excision.

-Multiple lymph node dissections, and the parotid gland removal. Spec of melanoma found in one node.

-1 year of high-dose interferon.

-"ALLEGEDLY" BRAF negative.

-Developed lung mets–needle biopsy confirmed: Did 6 cycles of high-dose IL-2.

-All lung mets either disappeared or stopped growing–2 year later, no issues in the lungs.

-Rewind a bit…December of 2015, had a seizure. Found 2 brain mets. Treated with Gamma Knife. All good,  spring of 2016, when one continued to swell/grow, etc. Had a craniotomy to remove it. Was paralyzed on my left side, but with therapy and with the swelling going down, got around 95% of function back. Still weak though on left leg…

-Since the surgery, I had a few small seizures.  Then, in December of 2016, emergency surgery, massive hematoma in area treated by Gamma Knife.

-More Gamma Knife afterwards, January 2017,new lesion found and treated, also treated surgical beds

-Another Craniotomy in May 2017 for area where hematoma was, as tumor grew back here–found this in follow-up MRI in April.  Easy in, easy out…recovered fast from this one.

-Intussusception found in colon, partial small blockage in June of 2017. Tumor found.  Small bowel resection–confirmed melanoma.

-MRI of Brain in July of 2017 shows new lesions in Brain–Recommended to have whole-brain radiation: declined recommendation for WBRT.

-Went to UPenn, across country. Started Ipi/Nivo, against wishes of West Coast docs who recommended WBRT (due to history of Crohns…)

-No problems with first dose of Ipi/Nivo.  HOWEVER, received word from another research center I visited for third opinion that they tested one of my tumor samples and it WAS BRAF POSITIVE.

So, here I am, with new news of BRAF.  Has anyone been tested for BRAF and came back negative and then later came back positive?  I was told primary site could come back negative and metastasis positive.  My big issue is that my expert doctor in melanoma (whom I have now left)  never reported to me that any other samples were indeed positive, and this eliminated treatment options over the past few years: treatment options that could have potentially avoided me having craniotomies and other treatments.  There were a total of 5 samples that were analyzed, but I don't know as of today which came back positive (I'm working on that now…).  Obviously, these are all "maybe" situations regarding what could have happened with treatment, but you can imagine my frustration.  I'm thrilled by the news of another treatment option with targeted therapy, especially with things being in dire straights right now, but not thrilled that a top-ranked expert in melanoma and immunotherapy did not share these results with me or even look at them after surgery/biopsy, especially when I was in regular contact with him. Then, he suggested WBRT which could have been a very ugly situation for the long term.  I'm 41 years old…One challenge is I live far from him in a small town, but I do visit him and also talk on the phone/email to–my local hospital is a part of his health system.

UGH.

I'm also curious about those who might have used targeted therapy with ipi/nivo, either before, during, or after the immunotherapy.

Would love to hear thoughts on doctor liability too, regarding what exactly is a doctors liability after each biopsy in informing a patient about BRAF, even if one came back negative at some point.  My file actually has indicators that there was a "partial" positive a few years ago, but no further testing was done.

Thanks everyone,