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Question about CDKN2A mutation

Forums General Melanoma Community Question about CDKN2A mutation

  • Post
    Mellani W
      In late 2005 I noticed a small bump on the back of my arm and in April 2006 I was diagnosed with a 2.5mm ulcerated melanoma. I had WLE, SLNB, and ELND and two lymph nodes were positive, so I was diagnosed with stage 3b. The only treatments offered to me at the time were interferon, which I passed on, and GM-CSF, which I only did for 11 days due to severe side effects. I have managed to remain NED since May 2006.

      I recently did whole genome testing and discovered that I have the c.377T>A (p.Val126Asp) mutation in the CDKN2A gene, which is considered a pathogenic mutation for Pancreatic Cancer/Melanoma Syndrome. I assume I inherited this from my mother, but she passed away from pancreatic cancer in 1986 at the age of 43 so I will never know.

      The only follow-up I’ve really had for the melanoma was chest x-rays and bloodwork. I’ve been to the dermatologist but they just ask me if I notice any strange spots on my skin and they seem to think I’m “cured” and won’t actually look at my skin. Getting a decent dermatologist would require driving hundreds of miles. We have limited options where I live.

      I’ve always known that I’m at higher risk for both pancreatic cancer and melanoma, but I wonder if I should pursue a geneticist or get my kids tested? I feel like I’m just sitting here waiting for some type of cancer. I have VA health care in a rural area so getting scans or any other screening will likely be next to impossible. I think my anxiety is just getting the best of me right now but I haven’t kept up to date on melanoma treatments so I’m curious if anyone has any advice on what I should do next, if anything. Thanks!



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