Erschienen in:
15.03.2024 | ASO Author Reflections
ASO Author Reflections: A Call for Updated Recommendations for Germline Mutation Testing in Patients with Primary Hyperparathyroidism
verfasst von:
Sophie Dream, MD, MPH, Patrick T. Hangge, MD, Tracy S. Wang, MD, MPH
Erschienen in:
Annals of Surgical Oncology
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Ausgabe 6/2024
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Excerpt
The majority of patients with primary hyperparathyroidism (PHPT) have sporadic disease, but up to 10% of patients may have a germline mutation associated with a familial syndrome, such as multiple endocrine neoplasia (MEN) type 1, MEN 2A, MEN 4, hyperparathyroidism–jaw tumor syndrome, and familial isolated hyperparathyroidism, or a mutation causing a syndrome for which parathyroidectomy would not be curative (familial hypocalciuric hypercalcemia). Therefore, identification of potential germline mutations that would affect the decision to proceed with surgery and/or the extent of parathyroidectomy is critically important. Contemporary recommendations for genetic counseling and testing in patients with PHPT have significant variation, particularly with respect to age (ranging from < 30 years to < 40 years) and the indications for testing in patients with multigland parathyroid disease (MGD).
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