From 1997 – 2014, all patients presenting to the tertiary referral Department of Clinical Genetics for South West Sydney with a positive molecular genetic result for MEN were identified and retrospectively analysed for demographic data, genotype, phenotype and clinical progress.
6 families with MEN were identified; 3 had MEN1, while rest had MEN 2a
1st family was Cambodian in origin. Proband had metastatic medullary thyroid cancer and recurrent bilateral extra adrenal pheochromocytomas consistent with MEN 2a. The RET proto-oncogene was identified; her children were negative while a cousin, who had medullary throid carcinoma and bilateral pheochromocytoma, was checked; results pending.
2nd family was Lebanese in origin. Proband had prolactinoma and hyperparathyroidism and found to have a rare mutation in MEN1 gene, later also found in her unaffected father.
3rd family was Anglo-Australian with known family mutation of TAS1 gene for MEN 1. Proband and mother were asymptomatic and had positive predictive tests, while maternal grandmother was positive with prolactinoma and hyperparathyroidism
4th family was Spanish in origin. While proband had negative predictive test, the sister and nephew were found to have a RET proto-oncogene for MEN 2a.
5th family was Anglo-Australian with known MEN 2a. Proband had pheochromocytoma with RET gene mutation; her unaffected daughter has the same mutation while 2 sons were negative.
6th family was Greek in origin. Proband has prolactinoma and hyperparathyroidism and pathogenic mutation for MEN1; waiting results of predictive testing for her children.
While MEN is a rare disorder, the diagnosis is associated with a long term risk for malignancy. Screening at-risk family members is an essential part of management as it allows for targeted surveillance and early detection of neoplastic processes.