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Multiple endocrine neoplasia 1--current recommendations for diagnosis and treatment
Klaus Kaczirek1, Gerhard Prager, Martin Schindl
1Section Endocrine Surgery, Division of General Surgery, Department of Surgery, University of Vienna, Medical School, Vienna, Austria. Klaus.Kaczirek@akh-wien.ac.at
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.
Conclusion:
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.
Insights
Early diagnosis and meticulous surgical management are key for curing Multiple Endocrine Neoplasia type 1 (MEN 1) syndrome. This study reviews therapeutic approaches for MEN 1, emphasizing long-term cure with low morbidity.
Area of Science:
- Endocrinology
- Genetics
- Surgical Oncology
Background:
- Multiple Endocrine Neoplasia type 1 (MEN 1) syndrome affects parathyroid, pancreas, pituitary, and adrenal glands.
- Gland involvement in MEN 1 is often diffuse or multi-centric, necessitating varied therapeutic strategies.
Purpose of the Study:
- To review diagnostic, interventional timing, and surgical recommendations for MEN 1 syndrome.
- To evaluate therapeutic outcomes in patients with genetically proven or clinically suspected MEN 1.
Main Methods:
- Retrospective analysis of 10 patients with MEN 1 syndrome.
- Review of diagnosis, intervention timing, and surgical procedures for affected glands.
Main Results:
- All patients presented with primary hyperparathyroidism (PHPT); 6 underwent subtotal parathyroidectomy for multiglandular involvement.
- Neuroendocrine pancreatic tumors were the initial manifestation in 3 patients; various surgical techniques were employed.
- Adrenal and pituitary lesions were also managed surgically, with no reported persistence or recurrence of hormone excess during follow-up.
Conclusions:
- Early diagnosis of MEN 1 is crucial, requiring clinical suspicion, biochemical screening, and menin gene testing.
- Meticulous surgical intervention for PHPT with multiglandular disease and neuroendocrine pancreatic tumors can lead to long-term cure with low morbidity.