Family Genetic Testing in the Presence of MEN Syndrome
If a family member has a known MEN-1 syndrome, what is the recommended testing and screening for other family members? And what constitutes "family"- first degree, second, etc?
Shana Merrill, CGC, Genetic Counselor at Penn Medicine responds.
If a person or family member has known, clear MEN-1 then they should seek genetic evaluation to address this issue as it specifically relates to their family. The first step would be for the person who has MEN-1 to have genetic testing if possible. If the MEN1-causing mutation can be identified, then relatives can have targeted, definitive genetic testing for the family mutation to determine whether or not they also have MEN-1 and consequently whether or not they require any clinical screening. If the familial mutation is known, and a person does not carry it then they do not have MEN-1, do not require screening, and cannot pass it on to children. If the familial mutation cannot be identified, then all first degree individuals should have thorough clinical screening for MEN-1. There are various protocols for clinically screening patients at-risk for MEN-1 and recommendations are based on expert opinion regarding the specific clinical situation as opposed to standardized guidelines. However, all protocols would include blood work and imaging, with some studies performed annually; protocols are age-dependent with different screening recommendations at different ages. More specifically, all screening protocols typically include parathyroid hormone (PTH) and calcium levels, prolactin levels, gastrin levels, brain MRI with contrast, and consideration of abdominal imaging. These recommendations would also apply for someone who is known to carry a familial MEN1-causing mutation. If a family member is over 50 years of age and does not have any evidence of hyperparathyroidism after measuring PTH and calcium, they do not have MEN-1 and therefore we would not initiate the other screening recommendations (or screening of their children).
This question and answer was part of the OncoLink Brown Bag Chat Series. View the entire transcript from the Focus on Neuroendocrine Tumors Webchat.