cc RCC and MITF mutation

StephAmbler85
StephAmbler85 Member Posts: 5 Member

Hello everyone! I am a female diagnosed at 32 with 3cm cc RCC on left kidney, lower pole. I had open partial nephrectomy. I am going to be 6 years remission on 1/20/2024. I had genetic testing done and I came up positive for mutation MITF. It causes cutaneous malignant melanoma. This mutation also causes cc RCC, but unknown why. Anyone else have this genetic mutation? I do have dark brown moles, or Nevi on my body. Melanoma is not surprising. No one in my family has been diagnosed with Renal cancer. My question is about reoccurrence. Anyone out there like me?

Comments

  • Deanie0916
    Deanie0916 Member Posts: 614 Member

    Hi, I don't think I have that mutation so I don't have any knowledge about that. I do have the chek2 gene mutation. Hope someone else on here has more info for you.

  • key2025
    key2025 Member Posts: 13 Member

    Congratulations on your remission! A good scientific resource to learn about genes and mutations is oncokb, but it sounds likely you’ve already read up on MITf.

    MITf is very rare in the cancer genomics databases (1% of RCC) but that could be a detection issue. They’re officially referred to as TFE3 and TFB from a brief literature search. You may have better luck with using those terms.

    Didn’t see information on reoccurence, Very small numbers though but hopefully a clinician will do a retrospective analysis by screening archived samples.

  • StephAmbler85
    StephAmbler85 Member Posts: 5 Member

    Thank you for replying! I greatly appreciate it. I saw TFE3 and TFB but wasn't sure if it had to do with MITF. I will speak to a geneticist about the results on Feb 5th.

  • StephAmbler85
    StephAmbler85 Member Posts: 5 Member

    Sorry, I just wanted to let you know I searched the tfe3 gene and translocation RCC. It usually happens in women 35 years or younger. I was 32 when I was diagnosed with my 3cm tumor. Its so great to have some answers! Thank you again! :)

  • key2025
    key2025 Member Posts: 13 Member

    No worries, the science stuff can be super confusing and overwhelming. Current literature suggests that patients with MITF, TFEB, and TFE3 translocations are interchangeable with each other because those genes are very similar in both structure/function and are involved in the same biological processes. And likely by grouping those patients together they hope to learn something meaningful from a statistics point of view.

    Happy to go through anything you were too afraid to ask your geneticist.