Who Should Be Considered for Genetic Counseling and Testing

In general, genetic screening of presymptomatic individuals is appropriate when early therapeutic interventions are available for the tumors diagnosed, particularly when diagnosed at a preclinical stage. Although this has not been proven in randomized, prospective studies of MEN 1 patients and remains somewhat controversial, there is an increasing body of evidence to support this contention, particularly with regard to MEN 1 pancreatic neuroendocrine tumors.13,47"52 Although early recognition and intervention with regard to parathyroid and pituitary neoplasia does not prolong survival, it can reduce or prevent morbidity associated with hormonal overactivity and mass effect.

Clinical screening of at-risk family members belonging to known MEN 1 kindreds should begin in adolescence, a time when biochemical abnormalities can begin to be detected long before overt clinical manifestations and metastases occur.13 If a familial mutation has been identified, a negative genetic test in an at-risk family member precludes the need for routine, lifelong biochemical screening and imaging. However, if a mutation is not detected in a proband, further testing for MEN1 mutations in at-risk family members is not indicated, and presymptomatic testing is not possible by direct DNA testing. In these cases, at-risk family members must continue to be clinically monitored throughout their lifetimes. Such families in which a mutation cannot be identified may consider pursuing linkage analysis, a less direct method of tracking the disease allele through the family.

Because the process of genetic testing can be complicated, genetic counseling is recommended for all families considering this option. Presymptomatic testing of at-risk family members can be emotional, and families may benefit from a session with a genetic counselor. The genetic counselor acts as a guide, explaining the pros and cons of testing as well as aiding with interpretation of the results should the family choose to proceed.

Regarding testing of apparently sporadic MEN 1 patients, mutation screening should be considered in young patients (<50 years of age) with HPT, particularly in those with multigland disease or recurrent HPT in the absence of renal disease. Consideration should also be given to testing patients with prolactinomas because up to 14% of such patients may actually have MEN 1. Testing is also appropriate for patients with multiple pancreatic neuroendocrine tumors (calcium levels should be checked in all patients with solitary PETs), patients with any MEN 1 lesion and an adrenal lesion, and patients with bronchial and thymic carcinoids (Table 76-2).13

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