From: Diagnosis and Management of Multiple Endocrine Neoplasia Type 1 (MEN1)
Criteria for mutation analysis |
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MEN1 mutation analysis is offered to: |
   - MEN1 patients: patients with three of the five major MEN1-associated lesions: parathyroid adenomas, pancreatic islet cell tumours, pituitary adenomas, adrenal adenomas, neuroendocrine carcinoid tumours; |
   - First degree family members (parents, brothers, sisters, children) of MEN1 patients with a confirmed MEN1 germline mutation, family members of clinical MEN1 patients without an identified germline mutation or who declined mutation analysis; |
   - First degree family members of asymptomatic MEN1 germline mutation carriers; |
   - Suspected MEN1 patients: patients with two of the five major lesions, two MEN1-associated tumours within one organ and/or a MEN1-associated lesion at a young age (<35 years). |
Periodical clinical monitoring |
MEN1 patients, MEN1 gene germline mutation carriers and suspected MEN1 patients without a confirmed mutation are eligible for periodical clinical monitoring. |
This includes: |
   From the age of five: biannual clinical examination, laboratory investigation including measurement of ionised calcium, chloride, phosphate, parathyroid hormone, glucose, insulin, c-peptide, glucagon, gastrin, pancreatic polypeptide, prolactin, insulin like growth factor 1 (IGF-I), platelet serotonin and chromogranin A. |
From the age of 15: once every two years: |
   Magnetic resonance imaging (MRI) of the upper abdomen |
   MRI of the pituitary with gadolinium contrast |
   MRI of the mediastinum in males |