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Germline GCM2 Mutation Screening in Chinese Primary Hyperparathyroidism Patients
An Song1, Yi Yang1, Yabing Wang1
1From the Key laboratory of Endocrinology, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Summary
Glial cell missing 2 (GCM2) mutations were screened in Chinese primary hyperparathyroidism (PHPT) patients. Activating GCM2 mutations were found in 1.3% of patients, suggesting a higher risk of malignancy.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Glial cell missing 2 (GCM2) is crucial for parathyroid gland development and implicated in primary hyperparathyroidism (PHPT).
- Limited data exists on GCM2 mutations in Asian populations with PHPT.
Purpose of the Study:
- To screen for germline mutations in the GCM2 gene in Chinese patients diagnosed with PHPT.
- To investigate the functional impact and clinical relevance of identified GCM2 variants.
Main Methods:
- Targeted next-generation sequencing was used to analyze 8 candidate PHPT-associated genes, including GCM2, in 232 Chinese PHPT patients.
- Luciferase assays were employed to assess the functional effects of GCM2 variants.
Main Results:
- Three rare GCM2 missense variants (p.K388E, p.V382M, p.Y416C) were identified in four male patients.
- Two variants (p.K388E, p.V382M) demonstrated altered GCM2 transactivation function.
- GCM2 mutations were associated with parathyroid carcinoma (p.K388E) and atypical adenoma (p.V382M).
Conclusions:
- A 1.3% frequency of gain-of-function GCM2 mutations was observed in the Chinese PHPT cohort.
- Activating GCM2 mutations are linked to a higher tendency for malignancy in PHPT.
- Preoperative screening for GCM2 mutations may aid treatment decisions and warrants further follow-up.
