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How To Test For Multiple Endocrine Neoplasia?

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Posted on Sat, 2 Aug 2014
Question: I am concerned that since my twin sister has MEN 1 (hyperparathyroid and pancreatic cancer) and my CGA was normal, then I may have a thymic carcinoid. I had a chest xray but they were not looking for my thymus in particular. My 5-HIAA test was also normal, urine calcium is 383, I have osteopenia, pth=103, coritosol=51, calcitonin=3, prolactin=9 last month, now=5.
doctor
Answered by Dr. Shehzad Topiwala (1 hour later)
Brief Answer:
MEN 1

Detailed Answer:
I understand what you are saying here.

If possible, why dont you consider genetic testing for MEN 1 DNA sequences?

This way you will know whether you have to be vigilant lifelong for various associated conditions and not just carcinoid. For example I see the CGA, 5HIAA and prolactin are normal but imaging such as MRI or CT may be necessary if you truly have MEN1

Further I see some evidence of possible 'hyperparathyroidism' ie your PTH and urine calcium are high. The key test now is serum calcium.

If you are found to have this condition it would be relevant to aggressively screen for other elements of MEN1 such as IGF1 and fasting glucose


Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Shehzad Topiwala (4 hours later)
blood test for calcium was 9.5, globulin is 3.6, blood glucose 105, vitamin D OH 38 ng, thyroglobulin ab negative, tpo ab 839, serum interpretation said no monoclonal proteins identified, serum protein said no M bands. I have an octreoscan scheduled, but I am just wondering if thymus cancer would have probably shown on a chest xray or in any of the blood work? Thanks!
doctor
Answered by Dr. Shehzad Topiwala (10 hours later)
Brief Answer:
Follow up

Detailed Answer:
I recommend checking an ionized calcium, phosphorus and magnesium levels. The reason is that we need to make a proper diagnosis of primary hyperparathyroidism, if you indeed have it. If not, it needs to be reliably ruled out. The above tests are relevant in light of the new results you have just shared. It can be complex to interpret the results so I urge you to see an endocrinologist in person. It is not as simple as reading numerical values.

Regarding your thyrmus related queries, let me try to settle the issue in your mind. First of all, we dont know if you have MEN1. It is only after we have something to indicate this possibility such as the presence of primary hyperparathyroidism that we can start considering thymus carcinoid. Ideally as mentioned above, genetic testing will help us ascertain matters.

So with that pr, allow me to give you the scoop on screening in MEN1 — Thymic Neuroendocrine tumors, while rare, represent tumors with greater malignant (cancer) potential than other MEN1-associated tumors, and therefore are an important cause of morbidity and mortality in MEN1 kindreds. Some experts have recommended that male MEN1 patients over the age of 25 undergo screening with annual chest x-ray and chest CT every three years , but there is no consensus on this issue. Others recommend annual chest CT in all patients with MEN1 who are over the age of 25, particularly men . The benefits of screening are debated, given that no study has shown that early diagnosis through screening improves prognosis.
Prophylactic (preventative; even before the diagnosis of thymic cancer is made)) thymectomy (surgical removal of the thymus) is generally recommended during parathyroidectomy (surgical removal of the parathyroids) for patients with MEN1 who have primary hyperparathyroidism, although its benefits are also debated. Prophylactic thymectomy may not prevent the development of thymic carcinoids, as the occurrence of thymic carcinoid in a patient with MEN1 despite a prophylactic transcervical thymectomy has been reported. If prophylactic thymectomy is considered, it is imperative that complete resection of all anterior mediastinal tissue that can potentially contain thymic tissue is performed.

Furthermore, its benefit in improving prognosis is unproven. Nevertheless, routine cervical thymectomy does not increase morbidity, and there is potential benefit of preventing at least some thymic carcinoids, so it is generally favored. Other minimally invasive approaches to achieve thymectomy may allow more complete thymic tissue removal, and represent options for prophylactic thymectomy
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
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Follow up: Dr. Shehzad Topiwala (6 hours later)
thanks for all of the information. It's really appreciated. phosphorus is 2.5, magnesium is 2.1. I don't think my caclium is ionized calcium, it's just urine calcium of 383 and blood calcium of 9.1 and another test at same time of blood calcium of 9.5. I don't know why they took two blood calcium levels at the same time. Thanks again.
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Dr. Shehzad Topiwala

Endocrinologist

Practicing since :2001

Answered : 1663 Questions

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How To Test For Multiple Endocrine Neoplasia?

Brief Answer: MEN 1 Detailed Answer: I understand what you are saying here. If possible, why dont you consider genetic testing for MEN 1 DNA sequences? This way you will know whether you have to be vigilant lifelong for various associated conditions and not just carcinoid. For example I see the CGA, 5HIAA and prolactin are normal but imaging such as MRI or CT may be necessary if you truly have MEN1 Further I see some evidence of possible 'hyperparathyroidism' ie your PTH and urine calcium are high. The key test now is serum calcium. If you are found to have this condition it would be relevant to aggressively screen for other elements of MEN1 such as IGF1 and fasting glucose