Category: Other - Multiple Endocrine Neoplasia

Monitor: 23

23 - AN INTERESTING CASE OF MEN1 LIKE SYNDROME

Saturday, Apr 27
10:30 AM – 11:00 AM

Objective :

Multiple endocrine neoplasia type 1 (MEN1) is a challenging syndrome due to its extraordinary clinical complexity. MEN1 is characterized by primary hyperparathyroidism (PHPT) and functional or nonfunctional pancreatic neuroendocrine tumors and pituitary adenomas. Approximately 10% of patients with familial or sporadic MEN1-like phenotype do not have MEN1 mutations or deletions. Novel syndrome described as MEN4 has been established in 2008. It has been described as MEN1-like phenotype in patients without a MEN1 germline mutation. So far only 19 cases have been described and the most common phenotype of the all above mentioned cases included PHPT followed by pituitary adenomas. In our practice we have come across an interesting case that fits the above described criteria.


Methods : N/A


Results :

N/A


Discussion : We present a case of 52-year-old African American man with medical history significant for left parathyroid adenoma resected in 2011, left renal cell carcinoma with nephrectomy in 2006, prolactinoma diagnosed in 1996 resected in 2000, initially on Bromocriptine which was stopped several years ago, and hypogonadotropic hypogonadism on testosterone patch. Family history is significant for lung cancer in mother and aunts, thyroid disease in sister, COPD in father and no positive family history for endocrine tumors. He has a son in his 20’s without any known medical conditions. Patient underwent genetic testing for MEN1 mutation in December 2016 and results were negative. He is currently being tested for CDKN1B mutation to confirm MEN4.


Conclusion : Considering MEN4 syndrome as part of the differential diagnosis when managing endocrine tumors is important. In all 19 MEN4 syndrome cases reported to date, patients have been noted to develop concurrent thyroid, prostate or breast cancers. If our patient tests positive for MEN4, he will be the first reported such case with renal cell carcinoma. MEN4 clinical penetrance and precise tumor spectrum have not been defined. Currently the only valid testing for confirmation of a MEN4 diagnosis remains testing for CDKN1B mutations. Genetic counseling of patients and their close descendants should be considered and offered early when there is a high suspicion of MEN4 syndrome.

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Natasa Radovanovic

Internal Medicine Resident
James J Peters VAMC Bronx, Icahn School of Medicine At Mount Sinai (Bronx) Program

Dr. Natasa Radovanovic is currently PGY2 Internal Medicine resident at Icahn School of Medicine At Mount Sinai (Bronx) Program at James J Peters VA Bronx.

Regina Belokovskaya

Endocrinology fellow
Icahn School of Medicine at Mount Sinai, New York

Dr. Regina Belokovskaya is Endocrinology fellow at Icahn School of Medicine at Mount Sinai.

Pietra Greenberg

Chief of Endocrine
James J Peters VAMC Bronx, Icahn School of Medicine at Mount Sinai

Dr. Pietra Greenberg is a Chief of Endocrine at James J Peters VAMC Bronx.

Natasa Radovanovic

Internal Medicine Resident
James J Peters VAMC Bronx, Icahn School of Medicine At Mount Sinai (Bronx) Program

Dr. Natasa Radovanovic is currently PGY2 Internal Medicine resident at Icahn School of Medicine At Mount Sinai (Bronx) Program at James J Peters VA Bronx.