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Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international
Louise Vølund Larsen1, Delphine Mirebeau-Prunier2, Tsuneo Imai3
1Department of ORL Head & Neck Surgery and Audiology, Odense University Hospital, Odense, Denmark.
Objective:
Multiple endocrine neoplasia type 2A (MEN 2A) is a rare syndrome caused by RET germline mutations and has been associated with primary hyperparathyroidism (PHPT) in up to 30% of cases. Recommendations on RET screening in patients with apparently sporadic PHPT are unclear. We aimed to estimate the prevalence of cases presenting with PHPT as first manifestation among MEN 2A index cases and to characterize the former cases.
Design And Methods:
An international retrospective multicenter study of 1085 MEN 2A index cases. Experts from MEN 2 centers all over the world were invited to participate. A total of 19 centers in 17 different countries provided registry data of index cases followed from 1974 to 2017.
Results:
Ten cases presented with PHPT as their first manifestation of MEN 2A, yielding a prevalence of 0.9% (95% CI: 0.4-1.6). 9/10 cases were diagnosed with medullary thyroid carcinoma (MTC) in relation to parathyroid surgery and 1/10 was diagnosed 15 years after parathyroid surgery. 7/9 cases with full TNM data were node-positive at MTC diagnosis.
Conclusions:
Our data suggest that the prevalence of MEN 2A index cases that present with PHPT as their first manifestation is very low. The majority of index cases presenting with PHPT as first manifestation have synchronous MTC and are often node-positive. Thus, our observations suggest that not performing RET mutation analysis in patients with apparently sporadic PHPT would result in an extremely low false-negative rate, if no other MEN 2A component, specifically MTC, are found during work-up or resection of PHPT.
Insights
Primary hyperparathyroidism (PHPT) as the initial sign of Multiple Endocrine Neoplasia type 2A (MEN 2A) is rare, occurring in less than 1% of cases. Most patients also have medullary thyroid carcinoma (MTC), often with lymph node involvement.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia type 2A (MEN 2A) is a hereditary condition linked to RET gene mutations.
- Primary hyperparathyroidism (PHPT) is observed in up to 30% of MEN 2A patients.
- The utility of RET screening in sporadic PHPT cases remains uncertain.
Purpose of the Study:
- To determine the prevalence of PHPT as the first presenting symptom in MEN 2A index cases.
- To characterize the clinical and pathological features of these patients.
Main Methods:
- International retrospective multicenter study involving 1085 MEN 2A index cases.
- Data collected from 19 centers across 17 countries between 1974 and 2017.
Main Results:
- PHPT was the initial manifestation in 0.9% (10/1085) of MEN 2A index cases.
- Nine out of ten patients were diagnosed with medullary thyroid carcinoma (MTC) concurrently with parathyroid surgery.
- Of those with MTC, 71% (7/9) had lymph node metastasis.
Conclusions:
- The occurrence of PHPT as the first sign of MEN 2A is infrequent.
- Patients presenting with PHPT as the initial MEN 2A symptom frequently have associated MTC, often with nodal positivity.
- Omitting RET mutation analysis in sporadic PHPT cases may lead to a minimal false-negative rate if no other MEN 2A features are detected.
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