Multiple endocrine neoplasia 1--current recommendations for diagnosis and treatment.
BACKGROUND
The principally affected glands in the MEN 1 syndrome (parathyroids, pancreas, pituitary and adrenal glands) are often diffusely or multi-centrically involved, making different therapeutic approaches necessary.


METHODS
In a retrospective analysis of 10 patients with genetically proven (n = 7) or clinically suspected (n = 3) MEN 1 syndrome, recommendations for diagnosis, timing of interventions and surgical procedures are reviewed.


RESULTS
All patients had primary hyperparathyroidism (PHPT). An extended bilateral exploration localized 4 or more enlarged glands in 6 patients and subtotal parathyroidectomy (SPTX) was performed. In 4 patients, only one (n = 2) or two (n = 2) enlarged glands were removed. Two patients were reoperated for persistent PHPT and one patient developed recurrent PHPT. In 3 out of 6 patients, neuroendocrine pancreatic tumors were the first manifestation. 2 patients had solitary, one patient multiple benign and one patient multiple malignant insulinomas. Tumors were removed by enucleation, distal pancreatic resection or a combination of both. Out of the 2 patients with gastrinomas, one underwent partial pancreatoduodenectomy and the other has refused operation up to now. During follow-up, no persistence or recurrence of hormone excess was diagnosed. Three patients had non-functioning bilateral lesions of the adrenal glands, and one of these additionally had a small, clinically insignificant pheochromocytoma. Adrenalectomy was performed during pancreatic surgery in 2 patients, and endoscopically in one patient. Pituitary tumors were treated in 3 patients.


CONCLUSIONS
A high index of clinical suspicion, biochemical screening and menin gene testing, according to current guidelines, is mandatory for early diagnosis of MEN 1. In PHPT with multiglandular involvement and neuroendocrine pancreatic tumors, meticulous surgery can achieve a long-term cure in the majority of patients, with low morbidity.
Kaczirek
Klaus
K
Section Endocrine Surgery, Division of General Surgery, Department of Surgery, University of Vienna, Medical School, Vienna, Austria. Klaus.Kaczirek@akh-wien.ac.at
Prager
Gerhard
G
Schindl
Martin
M
Kaserer
Klaus
K
Gessl
Alois
A
Vierhapper
Heinrich
H
Niederle
Bruno
B
D000293:Adolescent; D000328:Adult; D000368:Aged; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D009363:Neoplasm Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins; D012086:Reoperation; D012189:Retrospective Studies; D012306:Risk
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins