Intraoperative Decision-Making and Technical Aspects of Parathyroidectomy in Young Patients With MEN1 Related Hyperparathyroidism.

Priscilla F Nobecourt,Nancy D Perrier,Jonathan Zagzag,Elliot A Asare

doi:10.3389/fendo.2018.00618

Abstract

One in 5,000 to 1 in 50,000 births have multiple endocrine neoplasia type 1 (MEN1). MEN1 is a hereditary syndrome clinically defined by the presence of two of the following endocrine tumors in the same patient: parathyroid adenomas, entero-pancreatic endocrine tumors and pituitary tumors. Most commonly, patients with MEN1 manifest primarily with signs and symptoms linked to primary hyperparathyroidism. By age 50, it is estimated that 100% of patients with MEN1 will have been diagnosed with primary hyperparathyroidism. These patients will need to undergo resection of their hyperfunctioning glands, however there is no clear consensus on which procedure to perform and when to perform it in these patients. In this original study we describe and explain the rational of our peri-operative approach and management at MD Anderson Cancer Center of MEN1 patients with hyperparathyroidism. This protocol includes preoperative evaluation, intraoperative decision-making and detailed surgical technique adopted for these patients' care. Additionally we review follow-up and disease management in instances of recurrent primary hyperparathyroidism in patients with MEN1 syndrome.

Highlights

DefinitionsMultiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome with an autosomal dominant pattern of inheritance
Germline mutation testing should always be preempted by genetic counseling and it should be offered to relatives prior to undergoing any other screening [2] if a germline multiple endocrine neoplasia type 1 (MEN1) mutation has been identified
In a retrospective review performed at MD Anderson Cancer Center (MDACC) it was found that MEN1 patients who were diagnosed with thymic carcinoid, had been diagnosed with PHPT in average 1 year prior to second diagnosis and none of the patients who underwent a parathyroidectomy had a prophylactic TCT to their knowledge [28]

Summary

INTRODUCTION

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome with an autosomal dominant pattern of inheritance. It is characterized by a mutation in the MEN1 gene on chromosome 11q13 [1]. The clinical diagnosis of this syndrome is done by diagnosing 2 of the 3 major MEN1 related endocrine tumors in the patient, which are parathyroid adenomas, entero-pancreatic endocrine tumors, and pituitary tumors. It is considered a familial MEN1 if beyond the index patient with a clinical diagnosis of MEN1, a. The female to male ratio of PHPT among patients with MEN1 syndrome is 1:1 and only 2–4% of patients with PHPT have MEN1 syndrome

Clinical Presentation and Diagnosis

INDICATIONS FOR TREATMENT

CONCLUSION

Findings

AUTHOR CONTRIBUTIONS