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Any one with Multiple Endocrine Neoplasms gene MEN1 and how diagnosed?
I am beginning process of genetic testing in response to a 2024 diagnosis of a single NET on the liver, treated with Y90, and a very recent diagnosis of hyperparathyroidism and elevated calcium, causing kidney stones. The referral to the geneticist has been made but without a clear explanation of why. Earlier genetic testing was of the liver NET to see if a origin site could be found, but this is a new referral. It seems that the MEN1 gene is the object of the genetic search. I'll learn more, but wondered if others had similar symptoms that did indeed result from the MEN1 gene. Thanks.
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@rcochran1 I do not have the MEN1 gene mutation, but I do have a PNET that has spread primarily to my liver. I believe up to 80% of of people with the MEN1 mutation have a high lifetime risk of developing a PNET. Was your previous genetic testing on the tumor itself or was it a blood draw? My genetic testing was a blood draw that tested for multiple mutations. I don't have any. I to am curious why you are getting new genetic testing and what type. Can you please let me know, when you find out? I am learning through your experience. Thank you.
Hi & thanks for your message.
1. The previous genetic testing was a Tempus test on the tumor itself. The primary goal was to help determine the origin tumor as only the single liver NET has ever been located despite much searching since fall 2023. The Tempus result broadly categorized the origin as "gastrointestinal." My doctor noted that he found it "interesting as pancreatic or pulmonary origins are often more clearly defined in these reports when they are suspected." Thus, while, rare, we could not "entirely exclude the liver" as the site of origin. But, as you noted, the pancreas is often a prime suspect to send a NET to the liver and I think he was initially thinking maybe it was the origin site.
2. To follow up on any doubts about the pancreas, in December 2025, I had an endoscope of the pancreas and a needle biopsy that came up clear. But with PET scans and such, they continue to look closely for any changes in the pancreas.
3. I learned today that I will speak with a genetic counselor on 9/29/26. Reading her specialties, I see she is all about MEN 1 & 2, so I now understand that referral. I will let you know what tests and results might follow from her work with me.
4. I now have referrals to an endocrinologist and urology to address the immediate issues of the hyperparathyroidism [high hormone levels], which caused my high calcium level, which created my kidney stones!
5. I immediately thought [with no medical knowledge] that the hyperthyroidism had to be related to my NET diagnosis simply because just like the liver NET, this gland was "running the show" and sending crazy orders out to my body to overproduce calcium. The liver NET gave me uncontrollable hypertension; type 2 diabetes, extreme swelling in legs/feet leaving me unable to walk or drive. When these tumors function, they are really something! After treatment, all these body systems returned to normal. But it gave me great empathy for those with diabetes after having had it only three months.
6. All my NET and this new NET related treatment is at Ohio State University, Wexner Medical Center.
I appreciate this connection.